For Debate: The Controversy whether Rotavirus Vaccination Attenuates the Incidence of Childhood Type 1 Diabetes.
Authors: Blumenfeld O, Hampe CS, Shulman L, Chen R, Laron Z Abstract Recent epidemiological surveys performed in Australia, USA and Israel demonstrate that Rotavirus vaccination correlates with an attenuated prevalence and/or incidence of early childhood diabetes (T1D). Other studies failed to confirm the above. PMID: 32780950 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: The Two Paths of Growth Hormone (Excess and Deficiency): Both Roads Uniquely Lead to Diabetes Mellitus.
Authors: Henry RK Abstract Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the spectrum of growth hormone (excess or deficiency) can be associated with diabetes mellitus is unique and clinicians should especially recognize that impaired glucose tolerance and even diabetes mellitus may develop in individuals predisposed to having growth hormone deficiency. PMID: 32780951 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

The Many Facets of Vitamin D in the Pediatric Population.
Authors: Scheffer-Rath ME, Boot AM Abstract Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D supplementation to prevent nutritional rickets was published recently. The vitamin D receptor is present in many cells of the body including cells of the immune system. Many studies have been published on associations between vitamin D deficiency and extra skeletal effects, mainly without proof of causality in intervention stud...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Only subsequently she developed an extremely late-onset nephropathy. Genetic analysis revealed the IVS9 + 5 G>A mutation in intron 9 of the WT1 gene. This clinical presentation and review of WT1 literature highlights the importance of considering FS in the differential diagnosis of patients with 46,XY disorders of Sexual development, even without nephropathy. Furthermore, the identification WT1 gene mutation prior to evident renal dysfunction indicates an immediate and close surveillance ...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Impact of Childhood Obesity on Bone Metabolism.
Authors: Silva MAFS, Dechichi P, Limirio PHJO Abstract Childhood obesity is a considerable worldwide health problem and a major risk factor for several chronic diseases. Fat rich diets result in altered serum levels of lipids, cytokines and hormonal factors, which influence skeletal acquisition and promote microstructural and mechanical behavior changes in bone, especially to bone quality and quantity. However, the possible longterm implications of high-fat diets in childhood are controversial. Despite not fully understood, multiple signaling pathways which support bone tissue homeostasis are altered under...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease.
Authors: Hampe CS, Polgreen LE, Lund TC, McIvor RS Abstract Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models. Dog,...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review.
Authors: Kochar IS, Chugh R Abstract Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia. Growth hormone (GH) has been widely used in children with achondroplasia. Various studies have shown 1st year increase in height velocity is about 2-3cm. Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondroplasia GH treatment seems to give better results when administered at puberty. Other forms of skeletal dysplasias are ...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

New Insights into Pheochromocytoma Biology: the Role of the Insulin - Like Growth Factor 1 (IGF1) System.
Authors: Pennisi PA, Fernández MC, Martin A Abstract Pheochromocytomas/paragangliomas (PCCs/PGLs) are rare neuroendocrine tumors, developed from chromaffin cells derived from the neural crest. From a genetic point of view PCCs/PGLs are divided as sporadic cases, and inherited cases as part of hereditary (familial) syndromes. While the majority is benign, up to 26% of PCCs/PGLs will undergo malignant transformation. Validated prognostic pathological parameters for malignant PCCs/PGLs are still lacking. Signaling that follows the interactions between IGFs and their receptor/s in tumor cells received extensi...
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Genetic and Environmental Factors in the Pathophysiology of Hashimoto's Thyroiditis.
Authors: Gaga R, Sur ML, Lazăr C, Lazea C Abstract Finding multiple familial patients with Hashimoto thyroiditis in our clinic a search in the literature confirms that genetic factors, in addition to environmental factors, seem involved in the etiology of this disease. PMID: 32780958 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Letters to the Editor: Why are Children with Klinefelter Syndrome Tall?
Authors: Kamar-Matias A, Laron Z PMID: 32780959 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 14, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

For Debate: Assessment of HbA1c in Transfusion Dependent Thalassemia Patients.
Authors: De Sanctis V, Soliman AT, Daar S, Di Maio S, Elsedfy H, Kattamis C Abstract At present, assessment of haemoglobin A1c (HbA1c) is widely used for the diagnosis and monitoring of treatment in diabetes mellitus (DM). However, the HbA1c level is affected by many factors such as those influencing the lifespan of red blood cells and the structure, function and amount of normal HbA. Therefore, the clinical significance of HbA1c assessment in thalassemia patients needs careful consideration, especially in transfusion dependent thalassemia patients (TDT) in whom circulating Hb is that of blood donors. Prel...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Neonatal and Infant Reference Intervals for FSH, LH, Testosterone, Estradiol, Cortisol and DHEA-S by Electrochemiluminescence in Argentina.
CONCLUSION: These reference intervals may help to increase the diagnostic power for the assessment of endocrine disorders during the first year of life. PMID: 32741154 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature.
CONCLUSION: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously. PMID: 32741155 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

A Clinical Update on Childhood Hypertension.
Authors: Sharma S, Sharma P Abstract BACKGROUND: Hypertension is one of the leading morbid factors in adults but often a less noticeable concern in childhood age group. Young population is now more vulnerable to lifestyle disorders leading to early chronic diseases if not addressed due to presence of ignorance and inadequate assessment. To label hypertension in pediatric age group, blood pressure should be ≥ 95th percentile for age, height and sex in small children. OBJECTIVE: Purpose of review is to unfurl the knowledge for monitoring and management of hypertension in children. We emphasize the ...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

Genetics of Neonatal Hypoglycaemia.
Authors: Zoledziewska M Abstract Hypoglycaemia is the most common metabolic health complication in newborns. Persistent and severe hypoglycaemia in a neonate is correlated with morbidity and could represent an early clinical manifestation of an endocrine or metabolic, genetically determined disorder. Besides this, the most common reason for neonatal hypoglycaemia is the inmature liver storage of glucose seen in preterms or children born intrauterine growth retarded. The genetic determination of hypoglycaemia is gene- and allele- heterogeneous, and thus complex to diagnose. Nevertheless its contribution to ...
Source: Pediatric Endocrinology Reviews - August 4, 2020 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research