Editorial Board
(Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - August 1, 2018 Category: Endocrinology Source Type: research

Causes and pathophysiology of hypoparathyroidism
Hypoparathyroidism, a disorder characterized by hypocalcemia ensuing from inadequate parathyroid hormone secretion, is a rather rare disorder caused by multiple etiologies. When not caused by inadvertent damage or removal of the parathyroids during neck surgery, it is usually genetically determined. Epidemiological figures of this disease are still scarce and mainly limited to countries where non-anonymous databases are available and to surgical case series. Both the surgical and non-surgical forms pose diagnostic challenges. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - July 28, 2018 Category: Endocrinology Authors: Luisella Cianferotti, Gemma Marcucci, Maria Luisa Brandi Source Type: research

Hypocalcaemic and Hypophosphatemic Rickets
Rickets refers to deficient mineralization at the growth plate and is usually associated with abnormal serum calcium and/or phosphate. There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets secondary to renal phosphate wasting), vitamin D-dependent rickets (defects of vitamin D metabolism) and nutritional rickets (caused by dietary deficiency of vitamin D, and/or calcium, and/or phosphate). Most rickets manifest as bone deformities, bone pain, and impaired growth velocity. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - July 4, 2018 Category: Endocrinology Authors: A.S. Lambert, A. Linglart Source Type: research

Preface
This issue of Best Practice and Research Clinical Endocrinology and Metabolism synthesizes the most recent and relevant advances in different areas of paediatric endocrinology and diabetes, including obesity. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 26, 2018 Category: Endocrinology Authors: Mohamad Maghnie, Sandro Loche, Natascia Di Iorgi Tags: Preface Source Type: research

New treatment modalities for obesity
The treatment of childhood obesity represents a greater challenge for pediatricians. To date, it is multidisciplinary,including behavioral, dietary, pharmacological, and surgical options. Given the limited efficacy of available treatments, scientific research on finding new solutions is very active. Several drugs comprising Metformin, Glucagon-like peptide- 1 receptor agonists, Naltrexone-bupropion, Phentermine-Topiramate, and Lorcaserin have been studied as pediatric antiobesity agents. Findings from clinical trials showed a modest but significant effect of these drugs on weight loss, but long-term studies are needed to b...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 25, 2018 Category: Endocrinology Authors: A. Grandone, A. Di Sessa, G.R. Umano, R. Toraldo, E. Miraglia del Giudice Source Type: research

Genetic causes and treatment of neonatal diabetes and early childhood diabetes
Diabetes mellitus and impaired fasting glucose associated with single gene mutations are less rare than previously thought and may account for more than 6% of patients attending a pediatric diabetes clinic. The number of loci involved in monogenic diabetes exceed 25, and appropriate genetic diagnosis is crucial to direct therapy, for genetic counseling and for prognosis of short- and long-term complications. Among patients with neonatal diabetes (i.e. with onset within first 6 months of life) and patients with Maturity Onset Diabetes of the Young (MODY; an autosomal dominant form of diabetes), those carrying mutations in K...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 25, 2018 Category: Endocrinology Authors: Fabrizio Barbetti, Giuseppe D ’Annunzio Source Type: research

Sclerosing bone dysplasias
The group of sclerosing bone dysplasia ’s is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and t he other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups. (Source: Best Practice and Research....
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 16, 2018 Category: Endocrinology Authors: Eveline Boudin, Wim Van Hul Source Type: research

Update on bone density measurements and their interpretation in children and adolescents
Following the increased awareness about the central role of the pediatric age in building bone for life, clinicians face more than ever the necessity of assessing bone health in pediatric subjects at risk for early bone mass derangements or in healthy children, in order to optimize their bone mass accrual and prevent osteoporosis. Although the diagnosis of osteoporosis is not made solely upon bone mineral density measurements during growth, such determination can be very useful in the follow-up of pediatric patients with primary and secondary osteoporosis. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 15, 2018 Category: Endocrinology Authors: Natascia Di Iorgi, Katia Maruca, Giuseppa Patti, Stefano Mora Source Type: research

Phosphate Homeostasis Disorders
Our understanding of the regulation of phosphate balance has benefited tremendously from the molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the glycosyltransferase GALNT3, the endopeptidase PHEX, and the matrix protein DMP1, and molecules that function as downstream effectors of FGF23 such as the longevity factor Klotho and the phosphate transporters NPT2a...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 15, 2018 Category: Endocrinology Authors: Marta Christov, Harald J üppner Source Type: research

Parathyroid Hormone Independent Hypercalcemia in Adults
Parathyroid independent hypercalcemia is characterized by suppressed parathyroid hormone (PTH) in the presence of hypercalcemia.Well known causes and mechanisms are redistribution of calcium from the skeleton, by malignant diseases; inadequately increased intestinal calcium uptake mediated by increased vitamin D activity, and reduced renal elimination due to medications. Frequent and infrequent causes are discussed, and more recent mechanistic models presented in this review.Most hypercalcemic conditions are stable and in equilibrium between the different organs, whereas the utmost severe cases are characterized by rapid r...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 15, 2018 Category: Endocrinology Authors: Jens Bollerslev, Mikkel Pretorius, Ansgar Heck Source Type: research

Non classical complications of primary hyperparathyroidism
Several studies suggested that the condition of primary hyperparathyroidism (PHPT) may be associated not only with the classical bone, kidney and gastrointestinal consequences, but also with cardiovascular, neuromuscular and articular complications, impaired quality of life and increased cancer risk. However, the only cardiovascular complications associated with PHPT, which seems to improve after parathyroidectomy, is left ventricular hypertrophy, while, data regarding the reversibility of hypertension, valve calcifications and increased vascular stiffness are inconsistent. (Source: Best Practice and Research. Clinical End...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 15, 2018 Category: Endocrinology Authors: Chiodini I, Cairoli E, Palmieri S, Pepe J, M.D. Walker Source Type: research

Management of hypogonadism from birth to adolescence
Management of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy or adolescence is unusual. The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic hypogonadotropic hypogonadism (IHH) and hypergonadotropic hypogonadism. Treatment of self-limited DP involves expectant observation or short courses of low dose sex steroid supplementation. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: Sasha R. Howard, Leo Dunkel Tags: 1 Source Type: research

Primary Adrenal Insufficiency in Children: Diagnosis and Management
Primary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in mineralocorticoids and adrenal androgens. Typical manifestations of primary adrenal insufficiency include hyperpigmentation, hypotension, hypoglycaemia, hyponatremia with or without hyperkalemia that are generally preceded by nonspecific symptoms at the onset. Recessively inherited monogenic disorders constitute the largest group of primary adrenal insufficiency in children. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: Tarik Kirkgoz, Tulay Guran Source Type: research

‘Management of Hypogonadism From Birth to Adolescence’ for Best Practice and Research Clinical Endocrinology and Metabolism
Management of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy or adolescence is unusual. The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic hypogonadotropic hypogonadism (IHH) and hypergonadotropic hypogonadism. Treatment of self-limited DP involves expectant observation or short courses of low dose sex steroid supplementation. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: Sasha Howard, Leo Dunkel Source Type: research

Genetic causes of proportionate short stature
Human growth is a very complex phenomenon influenced by genetic, hormonal, nutritional and environmental factors, from fetal life to puberty. Although the GH-IGF axis has a central role with specific actions on growth, numerous genes are involved in the control of stature. Genome-wide association studies have identified>600 variants associated with human height, still explaining a small fraction of phenotypic variation. Since short stature in childhood is a common reason for referral, pediatric endocrinologists must be aware of the multifactorial and polygenic contribution to height. (Source: Best Practice and Research....
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: Jes ús Argente, Luis A. Pérez-Jurado Source Type: research

The Evaluation and Management of the Boy with DSD
Atypical genitalia in a boy may have a very wide and diverse aetiology and a definitive diagnosis is often challenging to reach. Detailed clinical evaluation integrated with extensive biochemical and genetic studies play an important role in this process. Such care should be undertaken in highly specialized centres that can also provide access to a multidisciplinary team for optimal long-term care. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: F.N. Al-Juraibah, A.K. Lucas-Herald, M. Alimussina, S.F. Ahmed Source Type: research

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia
Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated insulin secretion which persists in the presence of low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1, PPM2, CACNA1D, FOXA2). Histologically, congenital HH can be divided into 3 types: diffuse, focal and atypical. (Source: Best Practice and Research. Clinical En...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - June 6, 2018 Category: Endocrinology Authors: Sonya Galcheva, Sara Al-Khawaga, Khalid Hussain Source Type: research

Hypocalcemic disorders
Calcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. However, disorders that lead to chronic hypocalcemia often have more subtle manifestations. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 28, 2018 Category: Endocrinology Authors: Erin Bove-Fenderson, Michael Mannstadt Source Type: research

Paget's disease of bone
is a focal disorder of bone remodelling that progresses slowly and leads to changes in the shape and size of affected bones and to skeletal, articular and vascular complications. In some parts of the world it is the second most common bone disorder after osteoporosis though in recent years its prevalence and severity appear to decrease. The disease is easily diagnosed and effectively treated but its pathogenesis remains incompletely understood. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Natasha M. Appelman-Dijkstra, Socrates E. Papapoulos Tags: 5 Source Type: research

Bone turnover: Biology and assessment tools
Bone turnover includes two processes: resorption (removal of old bone) and formation (laying down of new bone). N-terminal propeptide of type I procollagen (PINP) and C-telopeptide of type I collagen (CTX-I) are markers of bone formation and resorption, respectively, that the International Osteoporosis Foundation and the International Federation of Clinical Chemistry recommend for clinical use. Bone turnover markers (BTM) are subject to sources of variability, including feeding (lower resorption) and recent fracture (increased levels of all markers). (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Pawel Szulc Source Type: research

Familial Hypocalciuric Hypercalcemia and Related Disorders
Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α11, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other conditions causes significant morbidity and mortality, FHH generally follows a benign course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the mistaken diagnosis of primary hyperpa rathyroidism (PHPT), given the significant overlap of biochemical features. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Janet Y. Lee, Dolores M. Shoback Source Type: research

Paget ’s Disease of Bone
Paget ’s disease of bone is a focal disorder of bone remodelling that progresses slowly and leads to changes in the shape and size of affected bones and to skeletal, articular and vascular complications. In some parts of the world it is the second most common bone disorder after osteoporosis though in r ecent years its prevalence and severity appear to decrease. The disease is easily diagnosed and effectively treated but its pathogenesis remains incompletely understood. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Natasha M. Appelman-Dijkstra, Socrates E. Papapoulos Source Type: research

Update on Osteoporosis in Men
Osteoporosis in men remains under-diagnosed and under-appreciated. After a low trauma fracture, a man is less likely to have evaluation and treatment. The lifetime risk for osteoporotic fracture in older men may range from 13 to 25%, and as men live longer, there will be more fractures. Newer strategies for determining which men should have bone density testing are emerging. Information from observational studies are providing insights that allow targeted testing and treatment of those men at the highest risk for fracture. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Robert A. Adler Source Type: research

Central Precocious Puberty: From Genetics to Treatment
Central precocious puberty (CPP) results from early activation of the hypothalamic - pituitary -gonadal (HPG) axis and follows the same sequence as normal puberty. While many factors involved in pubertal initiation remain poorly understood, the kisspeptin system is known to play a key role. Currently, mutations in the kisspeptin system, MKRN3, and DLK1 have been identified in sporadic and familial cases of CPP. The diagnosis is based on physical exam findings indicating advancing puberty and on laboratory tests confirming central HPG axis activation. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 26, 2018 Category: Endocrinology Authors: Rebecca Schneider Aguirre, Erica A. Eugster Source Type: research

Editorial Board
(Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 18, 2018 Category: Endocrinology Source Type: research

Preface
Is there a system in our body that is not regulated by the endocrine system? Possibly not, as the  wide array of endocrine signals are essential for whole body homeostasis, whereas disrupted endocrine signalling leads to a spectrum of diseases, many of them having complex pathophysiology and being life threatening. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 18, 2018 Category: Endocrinology Authors: Matti Poutanen, Manuel Tena-Sempere Source Type: research

Genetics And Management Of Congenital Hypothyroidism
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis or dyshormonogenesis, with a highly variable expressivity and a frequently incomplete penetrance of the genetic defects. The phenotype-driven genetic analyses rarely yielded positive results in more than 10% of cases, thus raising doubts on the genetic origin of CH. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - May 11, 2018 Category: Endocrinology Authors: Luca Persani, Giuditta Rurale, Tiziana de Filippis, Elena Galazzi, Marina Muzza, Laura Fugazzola Source Type: research

Central adrenal insufficiency in children and adolescents
Central adrenal insufficiency (CAI) is a life-threatening condition caused by either pituitary disease (secondary adrenal insufficiency) or impaired hypothalamic function with inadequate CRH production (tertiary adrenal insufficiency). ACTH deficiency may be isolated or, more frequently, occur in conjunction with other pituitary hormone deficiencies and midline defects. Genetic mutations of the TBX19 causing isolated CAI are rare but a number of genes encoding transcription factors involved in hypothalamic-pituitary gland development, as well as other genes including POMC and PC1, are associated with ACTH deficiency. (Sour...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 10, 2018 Category: Endocrinology Authors: Giuseppa Patti, Chiara Guzzeti, Natascia Di Iorgi, Anna Elsa Maria Allegri, Flavia Napoli, Sandro Loche, Mohamad Maghnie Tags: 5 Source Type: research

Central Adrenal Insufficiency In Children and Adolescents
Central adrenal insufficiency (CAI) is a life-threatening condition caused by either pituitary disease (secondary adrenal insufficiency) or impaired hypothalamic function with inadequate CRH production (tertiary adrenal insufficiency). ACTH deficiency may be isolated or, more frequently, occur in conjunction with other pituitary hormone deficiencies and midline defects. Genetic mutations of the TBX19 causing isolated CAI are rare but a number of genes encoding transcription factors involved in hypothalamic-pituitary gland development, as well as other genes including POMC and PC1, are associated with ACTH deficiency. (Sour...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 10, 2018 Category: Endocrinology Authors: Giuseppa Patti, Chiara Guzzeti, Natascia Di Iorgi, Anna Elsa Maria Allegri, Flavia Napoli, Sandro Loche, Mohamad Maghnie Source Type: research

Animal models of endometriosis: Replicating the aetiology and symptoms of the human disorder
Endometriosis is a chronic incurable disorder that affects 1 in 10 women of reproductive age: associated symptoms include chronic pain and infertility. The aetiology of endometriosis remains poorly understood but patients, clinicians and researchers are all in agreement that new non-surgical therapies are urgently needed to reduce the severity of symptoms. Preclinical testing of drugs requires the development and validation of models that recapitulate the key features of the disorder. In this review we describe the best-validated animal models (primate, rodent, xenograft) and their contributions to our understanding of the...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 6, 2018 Category: Endocrinology Authors: Ioannis Simitsidellis, Douglas A. Gibson, Philippa T.K. Saunders Tags: 2 Source Type: research

Animal models of endocrine disruption
Endocrine disrupting chemicals (EDCs) are compounds that alter the structure and function of the endocrine system and may be contributing to disorders of the reproductive, metabolic, neuroendocrine and other complex systems. Typically, these outcomes cannot be modeled in cell-based or other simple systems necessitating the use of animal testing. Appropriate animal model selection is required to effectively recapitulate the human experience, including relevant dosing and windows of exposure, and ensure translational utility and reproducibility. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 6, 2018 Category: Endocrinology Authors: Heather B. Patisaul, Suzanne E. Fenton, David Aylor Tags: 4 Source Type: research

Animal Models of Endometriosis: replicating the aetiology and symptoms of the human disorder
Endometriosis is a chronic incurable disorder that affects 1 in 10 women of reproductive age: associated symptoms include chronic pain and infertility. The aetiology of endometriosis remains poorly understood but patients, clinicians and researchers are all in agreement that new non-surgical therapies are urgently needed to reduce the severity of symptoms. Preclinical testing of drugs requires the development and validation of models that recapitulate the key features of the disorder. In this review we describe the best-validated animal models (primate, rodent, xenograft) and their contributions to our understanding of the...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 6, 2018 Category: Endocrinology Authors: Ioannis Simitsidellis, Douglas A. Gibson, Philippa TK. Saunders Source Type: research

Animal Models of Endocrine Disruption
Endocrine disrupting chemicals (EDCs) are compounds that alter the structure and function of the endocrine system and may be contributing to disorders of the reproductive, metabolic, neuroendocrine and other complex systems. Typically, these outcomes cannot be modeled in cell-based or other simple systems necessitating the use of animal testing. Appropriate animal model selection is required to effectively recapitulate the human experience, including relevant dosing and windows of exposure, and ensure translational utility and reproducibility. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 6, 2018 Category: Endocrinology Authors: Heather B. Patisaul, Suzanne E. Fenton, David Aylor Source Type: research

Diagnosis and management of postnatal fetal growth restriction
Fetal growth restriction (FGR) can result from multiple causes, such as genetic, epigenetic, environment, hormonal regulation, or vascular troubles and their potential interaction. The physiopathology of FGR is not yet fully elucidated, but the insulin-like growth factor system is known to play a central role. Specific clinical features can lead to the identification of genetic syndromes in some patients. FGR leads to multiple global health concerns, from the perinatal period, with higher morbidity/mortality, through infancy, with neurodevelopmental, growth, and metabolic issues, to the onset of puberty and later in life, ...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 5, 2018 Category: Endocrinology Authors: Elo ïse Giabicani, Aurélie Pham, Frédéric Brioude, Delphine Mitanchez, Irène Netchine Tags: 10 Source Type: research

Diagnosis and management of hyperthyroidism from prenatal life to adolescence
Hyperthyroidism in children is a rare heterogeneous syndrome characterized by excessive thyroid hormone production. Its manifestations differ according to disease severity. For all forms of hyperthyroidism, treatment aims to restore a euthyroid state, enabling the child to demonstrate appropriate metabolism, growth, and neurocognitive development. Graves ’ disease is the most frequent cause of hyperthyroidism in children. Treatment modalities include antithyroid drugs, with the advantage that prolonged treatment for several years can be followed by freedom from medical intervention in about 40-50% of cases. (Source: ...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 5, 2018 Category: Endocrinology Authors: Juliane L éger, Jean Claude Carel Source Type: research

Diagnosis and Management of Postnatal Fetal Growth Restriction
Fetal growth restriction (FGR) can result from multiple causes, such as genetics, epigenetic, environment, hormonal regulation, or vascular troubles and their potential interaction. The physiopathology of FGR is not yet fully elucidated, but the insulin-like growth factor system is known to play a central role. Specific clinical features can lead to the identification of genetics syndromes in some patients. FGR leads to multiple global health concerns, from the perinatal period, with higher morbidity/mortality, through infancy, with neurodevelopmental, growth, and metabolic issues, to the onset of puberty and later in life...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 5, 2018 Category: Endocrinology Authors: Elo ïse Giabicani, Aurélie Pham, Frédéric Brioude, Delphine Mitanchez, Irène Netchine Source Type: research

Diagnosis and management of hyperthyroidism from prenatal life to adolescence
Hyperthyroidism in children is a rare heterogeneous syndrome characterized by excessive thyroid hormone production. Its manifestations differ according to disease severity. For all forms of hyperthyroidism, treatment aims to restore a euthyroid state, enabling the child to demonstrate appropriate metabolism, growth, and neurocognitive development. Graves ’ disease is the most frequent cause of hyperthyroidism in children. Treatment modalities include antithyroid drugs, with the advantage that prolonged treatment for several years can be followed by freedom from medical intervention in about 40-50% of cases. (Source: ...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 5, 2018 Category: Endocrinology Authors: Juliane L éger, Jean Claude Carel Source Type: research

WITHDRAWN: Translational studies provide insights for the etiology and treatment of cortical bone osteoporosis
The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://dx.doi.org/10.1016/j.beem.2018.02.006. The duplicate article has therefore been withdrawn.The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: Claes Ohlsson Tags: 5 Source Type: research

Genetically modified mouse models to investigate thyroid development, function and growth
The thyroid gland produces thyroid hormones (TH), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH) that binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways. TSH primarily activates the Gs-pathway, and at higher concentrations also the Gq/11-pathway, leading to an increase of intracellular cAMP and Ca2+, respectively. To date, the physiological importance of other G protein-mediated signaling pathways in thyrocytes is unclear. (Source: Best Practice and Research. ...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: C. L öf, K. Patyra, A. Kero, J. Kero Tags: 3 Source Type: research

Imaging endocrinology in animal models of endocrine disease
Endocrine organs secrete a variety of hormones involved in the regulation of a multitude of body functions. Although pancreatic islets were discovered at the turn of the 19th century, other endocrine glands remained commonly described as diffuse endocrine systems. Over the last two decades, development of new imaging techniques and genetically-modified animals with cell-specific fluorescent tags or specific hormone deficiencies have enabled in  vivo imaging of endocrine organs and revealed intricate endocrine cell network structures and plasticity. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: Patrice Mollard, Marie Schaeffer Tags: 8 Source Type: research

Translational Studies Provide Insights for the Etiology and Treatment of Cortical Bone Osteoporosis
Increasing attention is being focused on the important contributions of cortical bone to bone strength, fractures and osteoporosis therapies. Recent progress in human genome wide association studies in combination with high-throughput mouse gene knock out phenotyping efforts of multiple genes and advanced conditional gene inactivation in mouse models have successfully identified genes with crucial roles in cortical bone homeostasis. Particular attention in this review is given to genes, such as WNT16, POSTN and SFRP4, that differentially affect cortical and trabecular bone architecture. (Source: Best Practice and Research....
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: Robert Brommage, Claes Ohlsson Source Type: research

Genetically modified mouse models to investigate thyroid development, function and growth
The thyroid gland produces thyroid hormones (THs), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH), which binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways. TSH primarily activates the Gs-pathway, and at higher concentrations also the Gq/11-pathway, leading to an increase of intracellular cAMP and Ca2+, respectively. To date, the physiological importance of other G protein-mediated signaling pathways in thyrocytes is unclear. (Source: Best Practice and Researc...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: C. L öf, K. Patyra, A. Kero, J. Kero Source Type: research

Imaging Endocrinology in Animal Models of Endocrine Disease
Endocrine organs secrete a variety of hormones involved in the regulation of a multitude of body functions. Although pancreatic islets were discovered at the turn of the 19th century, other endocrine glands remained commonly described as diffuse endocrine systems. Over the last two decades, development of new imaging techniques and genetically-modified animals with cell-specific fluorescent tags or specific hormone deficiencies have enabled in vivo imaging of endocrine organs and revealed intricate endocrine cell network structures and plasticity. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 2, 2018 Category: Endocrinology Authors: Patrice Mollard, Marie Schaeffer Source Type: research

Editorial Board
(Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - April 1, 2018 Category: Endocrinology Source Type: research

Mouse models for the analysis of gonadotropin secretion and action
Gonadotropins are pituitary gonadotrope-derived glycoprotein hormones. They act by binding to G-protein coupled receptors on  gonads. Gonadotropins play critical roles in reproduction by regulating both gametogenesis and steroidogenesis. Although biochemical and physiological studies provided a wealth of knowledge, gene manipulation techniques using novel mouse models gave new insights into gonadotropin synthesis, secret ion and action. Both gain of function and loss of function mouse models for understanding gonadotropin action in a whole animal context have already been generated. (Source: Best Practice and Research...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - March 31, 2018 Category: Endocrinology Authors: Sara Babcock Gilbert, Allyson K. Roof, T. Rajendra Kumar Tags: 6 Source Type: research

Evidence from animal models on the pathogenesis of PCOS
Polycystic ovarian syndrome (PCOS) is the most common endocrine condition in women, and is characterized by reproductive, endocrine and metabolic features. However, there is no simple unequivocal diagnostic test for PCOS, its etiology remains unknown and there is no cure. Hence, the management of PCOS is suboptimal as it relies on the ad hoc empirical management of its symptoms only. Decisive studies are required to unravel the origins of PCOS, but due to ethical and logistical reasons these are not possible in humans. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - March 31, 2018 Category: Endocrinology Authors: K.A. Walters, M.J. Bertoldo, D.J. Handelsman Tags: 1 Source Type: research

Mouse models of peripheral metabolic disease
Metabolic disease risk is driven by defects in the function of cells that regulate energy homeostasis, as well as altered communication between the different tissues or organs that these cells occupy. Thus, it is desirable to use model organisms to understand the contribution of different cells, tissues and organs to metabolism. Mice are widely used for metabolic research, since well-characterised mouse strains (in terms of their genotype and phenotype) allow comparative studies and human disease modelling. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - March 31, 2018 Category: Endocrinology Authors: Gabriela da Silva Xavier, David J. Hodson Tags: 7 Source Type: research

Mouse Models for the Analysis of Gonadotropin Secretion and Action
Gonadotropins are pituitary gonadotrope-derived glycoprotein hormones. They act by binding to G-protein coupled receptors on gonads. Gonadotropins play critical roles in reproduction by regulating both gametogenesis and steroidogenesis. Although biochemical and physiological studies provided a wealth of knowledge, gene manipulation techniques using novel mouse models gave new insights into gonadotropin synthesis, secretion and action. Both gain of function and loss of function mouse models for understanding gonadotropin action in a whole animal context have already been generated. (Source: Best Practice and Research. Clini...
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - March 31, 2018 Category: Endocrinology Authors: Sara Babcock Gilbert, Allyson K. Roof, T. Rajendra Kumar Source Type: research

Evidence from animal models on the pathogenesis of PCOS
Polycystic ovarian syndrome (PCOS) is the most common endocrine condition in women, and is characterized by reproductive, endocrine and metabolic features. However, there is no simple unequivocal diagnostic test for PCOS, its etiology remains unknown and there is no cure. Hence, the management of PCOS is suboptimal as it relies on the ad hoc empirical management of its symptoms only. Decisive studies are required to unravel the origins of PCOS, but due to ethical and logistical reasons these are not possible in humans. (Source: Best Practice and Research. Clinical Endocrinology and Metabolism)
Source: Best Practice and Research. Clinical Endocrinology and Metabolism - March 31, 2018 Category: Endocrinology Authors: K.A. Walters, M.J. Bertoldo, D.J. Handelsman Source Type: research