Insulin-like Growth Factor 1, but Not Insulin-Like Growth Factor-Binding Protein 3, Predicts Central Precocious Puberty in Girls 6 –8 Years Old: A Retrospective Study
Conclusions: In clinical practice, IGF-1 SDS may be an additional tool for identifying CPP in girls aged 6 to 8 years when baseline clinical and laboratory diagnostic criteria are inconclusive, possibly avoiding more time-consuming and costly procedures.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 7, 2021 Category: Endocrinology Source Type: research

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
We present a critical appraisal of the concept of GHND and the role of 12- or 24-h GH profiles in the selection of children for GH treatment. The mean 24-h GH concentration in healthy children overlaps with that in those with GH deficiency, indicating that the previously proposed cutoff limit (3.0 –3.2 μg/L) is too high. The main advantage of performing a GH profile is that it prevents about 20% of false-positive test results of the GHST, while it also detects a low spontaneous GH secretion in children who would be considered GH sufficient based on a stimulation test. However, due to a con siderable burden for pat...
Source: Hormone Research in Paediatrics - June 4, 2021 Category: Endocrinology Source Type: research

Retraction Statement
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - June 1, 2021 Category: Endocrinology Source Type: research

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism
Conclusion: Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Conclusions: Patients with CAH had decreased BMD, especially in lumbar spine. Increased androgen exposure seemed to improve, while increased glucocorticoid dose impaired BMD.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Contents Vol. 93, 2020
Horm Res Paediatr 2020;93:I –VIII (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Acknowledgement to the Reviewers
Horm Res Paediatr 2020;93:657 –658 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - May 27, 2021 Category: Endocrinology Source Type: research

Measuring Insulin Resistance in Humans
Background: Insulin resistance is a pathophysiological condition associated with diabetes and cardiometabolic diseases that is characterized by a diminished tissue response to insulin action. Our understanding of this complex phenomenon and its role in the pathogenesis of cardiometabolic diseases is rooted in the discovery of insulin, its isolation and purification, and the challenges encountered with its therapeutic use.Summary: In this historical perspective, we explore the evolution of the term “insulin resistance” and demonstrate how advances in insulin and glucose analytics contributed to the recognition a...
Source: Hormone Research in Paediatrics - April 30, 2021 Category: Endocrinology Source Type: research

Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey
The objective of this mixed methods study was to assess screening practices for ND and MH in girls with TS from the perspective of pediatric endocrinologists.Methods: Pediatric Endocrine Society members who provide care for girls with TS were invited to complete an electronic survey on screening practices. Descriptive statistics were used to summarize quantitative results concurrently with thematic analysis of free-text survey responses.Results: A total of 124 surveys were completed (86% attending pediatric endocrinologists, 81% at academic institutions). Overall, 25% of providers reported their patients with TS received b...
Source: Hormone Research in Paediatrics - April 29, 2021 Category: Endocrinology Source Type: research

Difference in Insulin Resistance Assessment between European Union and Non-European Union Obesity Treatment Centers (ESPE Obesity Working Group Insulin Resistance Project)
Conclusions: Since there is no standard for the IR evaluation and uniform accepted indication of performing, an OGTT the assessment of insulin sensitivity varies between EU and non-EU centers. A widely accepted standardized protocol is needed to allow comparison between centers.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 26, 2021 Category: Endocrinology Source Type: research

Fertility Preservation for Prepubertal Patients at Risk of Infertility: Present Status and Future Perspectives
The increasing cure rate of cancer has led to a vast population of survivors having to face the late adverse effects of oncological treatments, with fertility impairment being one of the most sensitive issues for patients. Different options to preserve the fertility of adult patients are routinely used in clinical practice. However, fertility preservation strategies for prepubertal patients at risk of infertility are limited to the cryopreservation of immature gonadal tissue. In recent decades, many research efforts have been focused on the future use of cryopreserved gonadal tissue. This review discusses the common status...
Source: Hormone Research in Paediatrics - April 22, 2021 Category: Endocrinology Source Type: research

The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance
Conclusion: Patients with macrocephaly, impaired cognitive development and thyroid nodules, and/or early-onset gastrointestinal polyps should undergo constitutional testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance before 10 years of age. In PHTS patients with a normal physical examination, thyroid US surveillance can be delayed until 10 years of age.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 22, 2021 Category: Endocrinology Source Type: research

Kisspeptin Levels in Girls with Precocious Puberty: A Systematic Review and Meta-Analysis
Conclusions: A consistent difference in KP levels between girls with CPP and controls was identified. While there are important limitations in KP assays which argue against its use as a diagnostic tool, the KP levels in CPP versus control and PT children are consistent with the predicted mechanisms and pathophysiology of CPP.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 22, 2021 Category: Endocrinology Source Type: research

Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - April 7, 2021 Category: Endocrinology Source Type: research

Postoperative and Long-Term Endocrinologic Complications of Craniopharyngioma
Background: Craniopharyngioma (CP), despite being a malformational tumor of low histological grade, causes considerable morbidity and mortality mostly due to hypothalamo-pituitary dysfunction that is created by tumor itself or its treatment.Summary: Fluid-electrolyte disturbances which range from dehydration to fluid overload and from hypernatremia to hyponatremia are frequently encountered during the acute postoperative period and should be carefully managed to avoid permanent neurological sequelae. Hypopituitarism, increased cardiovascular risk, hypothalamic damage, hypothalamic obesity, visual and neurological deficits,...
Source: Hormone Research in Paediatrics - April 1, 2021 Category: Endocrinology Source Type: research

Peer Review of Paediatric Endocrine Services in the UK: A Template for Quality and Service Improvement
Conclusions: The BSPED peer review of all UK centres providing paediatric endocrine services is shown to be feasible and provides a quality benchmark for replication by national services.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 31, 2021 Category: Endocrinology Source Type: research

A Complicated Case of COVID-19 and Hyperglycemic Hyperosmolar Syndrome in an Adolescent Male
We report the case of a critically ill adolescent male with obesity, type 2 diabetes, and COVID-19 who presented with hyperglycemic hyperosmolar syndrome (HHS). This case highlights a challenge for clinicians in distinguishing severe complications of COVID-19 from those seen in HHS. Youth with obesity and type 2 diabetes may represent a high-risk group for severe COVID-19 disease, an entity that to date has been well-recognized in adults but remains rare in children and adolescents.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 31, 2021 Category: Endocrinology Source Type: research

Post-Transplantation Diabetes Mellitus in Pediatric Patients
More than 80% of pediatric solid organ transplant (SOT) recipients now survive into young adulthood and many encounter transplant-related complications. Post-transplantation diabetes mellitus (PTDM), sometimes also referred to as post-transplant diabetes or new onset diabetes after transplant, occurs in 3 –20% of pediatric SOT recipients depending upon the organ transplanted, age at transplantation, immunosuppressive regimen, family history, and time elapsed since transplant. To diagnose PTDM, hyperglycemia must persist beyond the initial hospitalization for transplantation when a patient is on sta ble doses of immun...
Source: Hormone Research in Paediatrics - March 31, 2021 Category: Endocrinology Source Type: research

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17 α-Hydroxylase/17,20-Lyase Deficiency
Conclusions: Early clinical presentation and diagnosis in 17OHD are associated with symptomatic hypertension in both 46,XX and 46,XY patients or inadequate virilization of external genitalia in 46,XY partial 17OHD. In the absence of these, the clinical presentation is at late pubertal ages at which time amenorrhea and elevated gonadotropins are the hints for diagnosis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 29, 2021 Category: Endocrinology Source Type: research

Fertility of Women Treated during Childhood with Triptorelin (Depot Formulation) for Central Precocious Puberty: The PREFER Study
Conclusion: The results, based on a limited sample of patients, suggest that CPP treated with triptorelin does not negatively impact women ’s fertility in adulthood. These results need to be consolidated with a subsequent study performed when these women will have reached their mid-thirties.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 26, 2021 Category: Endocrinology Source Type: research

A Comparison of Patients with Central Precocious Puberty Who Have a Pubertal versus Prepubertal Ultrasensitive LH at Presentation
Conclusions: The LH-ICMA can be prepubertal even in girls with advanced development. To our knowledge, ours is the largest cohort of boys in whom the accuracy of a random LH-ICMA has been reported.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 25, 2021 Category: Endocrinology Source Type: research

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
Conclusion: Biallelic variants inPLK4 lead to a syndrome where severe short stature, MCPH, and cognitive impairment are constant features. However, ocular, skeletal, and other neurological manifestations can vary upon the same genetic basis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 23, 2021 Category: Endocrinology Source Type: research

Socioeconomic Status Is Related to Pubertal Development in a German Cohort
Conclusion: Puberty onset/duration and boys ’ age at mutation is affected by SES. The proposed cutoff levels for serum LH and FSH could provide a serological tool to determine gonadarche in boys.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 17, 2021 Category: Endocrinology Source Type: research

Late Recovery of Parathyroid Function after Total Thyroidectomy in Children and Adults: Is There a Difference?
Conclusion: Almost half of patients recovered from persistent hypoparathyroidism after 6 months; therefore, the term persistent instead of permanent hypoparathyroidism should be used. Recovery rates of parathyroid function in children and adults were similar. Regardless of age, predictive factors for recovery were PGRIS score = 4 and a serum calcium #x3e;2.25 mmol/L at 1 month.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 11, 2021 Category: Endocrinology Source Type: research

Early Adiposity Rebound Predicts Obesity and Adiposity in Youth with Congenital Adrenal Hyperplasia
Conclusions: AR in youth with classical CAH could serve as a useful clinical marker to identify those patients who are at higher risk for developing cardiometabolic risk factors during childhood and adolescence.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 10, 2021 Category: Endocrinology Source Type: research

Metabolic Effects of Growth Hormone Treatment in Short Prepubertal Children: A Double-Blinded Randomized Clinical Trial
Conclusion: Treatment with GH resulted in a dose-dependent decrease in insulin sensitivity, demonstrated by higher levels of fasting insulin and signs of insulin resistance in both HOMA indices and FSIVGTT examinations.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 8, 2021 Category: Endocrinology Source Type: research

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role
Conclusion: This is the fourth disease-causing variant inCYB5A in isolated 17, 20 lyase deficiency and the first associated with testicular microlithiasis. Establishing a biochemical diagnosis pre-pubertally should now be possible using urine steroid profiling, supported by synacthen and gonadotrophin stimulation testing. We recommend liquid chromatography-mass spectrometry/mass spectrometry rather than immunoassay for serum steroid analysis, early methaemoglobin measurement and surveillance should testicular microlithiasis be detected.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 24, 2021 Category: Endocrinology Source Type: research

Diagnosis of Growth Hormone Deficiency in Children: The Efficacy of Glucagon versus Clonidine Stimulation Test
Conclusions: Screening of GH status with CST first is more efficient than that with GST first in diagnosing GHD in short children with suspected GHD. It is suggested that performing CST first may reduce the need for a second provocative test and avoid patients ’ inconvenience of undergoing 2 serial tests.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 10, 2021 Category: Endocrinology Source Type: research

Birthweight Differences in Adolescent Monozygotic Twins Influence Androgens, Psychological Morbidity, and Health-Related Quality of Life
Conclusion: Our results show that the prenatal environment leading to bw differences exerts a long-lasting impact on diverging parental evaluation of mental health. Formerly smaller discordant twins showed significantly lower HrQoL regarding psychological well-being and moods and emotions. Higher androstenedione concentrations were linked to greater psychological well-being.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 10, 2021 Category: Endocrinology Source Type: research

Cortisol and Cortisone in Early Childhood in Very-Low-Birthweight Infants and Term-Born Infants
Conclusions: In VLBW infants, lower 11 β-HSD2 activity probably contributes to the long-term metabolic and cardiovascular risks. In VLBW infants, early insulin treatment could affect programming of the HPA axis, resulting in higher cortisol and cortisone levels during early childhood.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 3, 2021 Category: Endocrinology Source Type: research

The Unique Role of 11-Oxygenated C19 Steroids in Both Premature Adrenarche and Premature Pubarche
Conclusions: PA and PP differ only by DHEAS and not by 11oAs or insulin sensitivity, consistent with 11oAs – rather than DHEAS – mediating the phenotypic changes of pubarche. Case correlations suggest association of 11oAs with T and A4. These data are the first to report the early morning steroid profiles including 11oAs in a well-defined group of PA, PP, and healthy children.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 2, 2021 Category: Endocrinology Source Type: research

Outcomes of Zoledronic Acid Use in Paediatric Conditions
Conclusion: This is the largest cohort of reported outcomes of ZA use in a paediatric population. Results demonstrate a good efficacy profile and associated improved bone density for osteoporotic conditions and stabilization of non-traumatic AVN with a low rate of joint collapse.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 28, 2021 Category: Endocrinology Source Type: research

Immunological Profile and Autoimmunity in Turner Syndrome
Turner syndrome (TS), characterized by the partial or complete absence of an X-chromosome, provides a unique insight into the role of the X-chromosome and the immune system. While women have a 10-fold higher incidence of autoimmune disease (AD) compared with men, the risk in women with TS is thought to be further doubled. TS is associated with a propensity for a wide variety of ADs that increase in incidence across the life span. Isochromosome Xq as well as isolated Xp deletion karyotypes may predispose to higher rates of AD in TS suggesting the impact of X-chromosome gene dosage. It is likely, however, that epigenetic cha...
Source: Hormone Research in Paediatrics - January 27, 2021 Category: Endocrinology Source Type: research

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience
Conclusion: Although the number of individuals born to consanguineous parents was considerably high in this cohort, KATP channel mutations (ABCC8/KCNJ11) were more common thanEIF2AK3 mutations (n = 6 vs.n = 1). Genetic analyses should be performed in all NDM cases due to the potential impact on treatment and prognosis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research

Preliminary Pages
Horm Res Paediatr 2020;93:I –XI (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research

29th Annual Meeting, SLEP, M érida, Mexico, December 2020: Abstracts
Horm Res Paediatr 2020;93:1 –46 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research

29th Annual Meeting, Mexico, December 2020: Abstracts
Horm Res Paediatr 2020;93:1 –46 (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research

Pediatric Endocrinology in the Time of COVID-19: Considerations for the Rapid Implementation of Telemedicine and Management of Pediatric Endocrine Conditions
Background: Pediatric endocrine practices had to rapidly transition to telemedicine care at the onset of the novel coronavirus disease 2019 (COVID-19) pandemic. For many, it was an abrupt introduction to providing virtual healthcare, with concerns related to quality of patient care, patient privacy, productivity, and compensation, as workflows had to change.Summary: The review summarizes the common adaptations for telemedicine during the pandemic with respect to the practice of pediatric endocrinology and discusses the benefits and potential barriers to telemedicine.Key Messages: With adjustments to practice, telemedicine ...
Source: Hormone Research in Paediatrics - January 22, 2021 Category: Endocrinology Source Type: research

Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome
Conclusions: GH-treated children with NS achieved substantial height gain during the first 3 years of follow-up. Overall, 24 patients achieved NAH, with 70.8% having NAH SDS ≥ –2. There was no evidence to support a higher prevalence of neoplasm, or cardiac or other comorbidities.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 13, 2021 Category: Endocrinology Source Type: research

For Premature Thelarche and Premature Adrenarche, the Case for Waiting before Testing
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 22, 2020 Category: Endocrinology Source Type: research

Diagnostic Value of Serum Acid-Labile Subunit Alone and in combination with IGF-I and IGFBP-3 in the Diagnosis of Growth Hormone Deficiency
Conclusion: Determination of serum ALS alone or in combination with IGF-I and IGFBP-3 did not improve definition of biochemical GHD in a cohort of short children and adolescents with suspected growth disorder. However, performance of IGFBP-3 in this context was not statistically superior to ALS.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 18, 2020 Category: Endocrinology Source Type: research

Age-Related Association of Calcitonin with Parameters of Anthropometry, Bone and Calcium Metabolism during Childhood
Conclusions: Our findings suggest a unique association between CT and Ca in periods of rapid bone growth and point to a possible involvement of CT in promoting bone formation during the first year of life.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 11, 2020 Category: Endocrinology Source Type: research

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance
Discussion: The post-mortem findings described aid understanding of the multiorgan involvement of MAS, providing new insights into possible pathogenetic mechanisms underlying the systemic effects ofGNAS mutations, and highlight a need for systematic surveillance for cerebrovascular changes in craniofacial FD that may be amenable to intervention to avoid catastrophic outcome.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 2, 2020 Category: Endocrinology Source Type: research

Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche
Conclusions: Low birth weight is a predisposing factor for premature adrenal activation. The increase in BMI in patients with idiopathic PP during the 4-years of follow-up was responsible for BA acceleration. We recommend prevention of excessive weight gain in children with PP and strict adherence to follow-up in order to prevent serious metabolic consequences.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 2, 2020 Category: Endocrinology Source Type: research

Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings
Conclusions: To the best of our knowledge, this is the first report of final height in patients with AMDM after long-term GH treatment. Our results confirm the finding of relative GH resistance in AMDM, which when overcome with high-dose GH treatment resulted in improved height SDS during childhood and adolescence and associated quality of life. The final height of our patients was significantly higher than average reported final height (120 cm) of AMDM patients.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 25, 2020 Category: Endocrinology Source Type: research

Clinical Predictors of Transient versus Persistent Neonatal Hyperinsulinism
Conclusion: A higher birth weight in the absence of maternal gestational diabetes is highly associated with a persistent form of HI. Given the marked difference in clinical outcomes between groups, expedited genetic testing should be considered in infants with this presentation to inform clinical management.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 16, 2020 Category: Endocrinology Source Type: research

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to < b > < i > Calcium Sensing Receptor (CaSR) < /i > < /b > Mutation
Conclusion: This case represents the youngest age at cinacalcet initiation and the longest duration without parathyroidectomy in a homozygous NSHPT and demonstrates that cinacalcet is an effective first-line treatment in patients who are responsive to this treatment modality and allows avoiding/delay in surgical intervention in NSHPT.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - November 4, 2020 Category: Endocrinology Source Type: research

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series
Conclusion: Nutritional rickets remains endemic in the pediatric population and its most severe forms can have life-threatening sequelae. Health practitioners need to be cognizant of these facts to raise awareness and screen high-risk populations.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 29, 2020 Category: Endocrinology Source Type: research

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A & #x3e;G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes
We report on a family presenting with a novel heterozygousIGF1R mutation with characterization of the mutation, IGF1R expression, and immune phenotyping. Twin probands presented clinically with short stature and hypoglycemia. Variable phenotypic expression was seen in 2 other family members carrying theIGF1R mutation. The probands were treated with exogenous growth hormone therapy and dietary cornstarch, improving linear growth and reducing hypoglycemic events.IGF1R c.641-2A#x3e;G caused abnormal mRNA splicing and premature protein termination. Flow cytometric immunophenotyping demonstrated lower IGF1R on peripheral blood ...
Source: Hormone Research in Paediatrics - October 28, 2020 Category: Endocrinology Source Type: research

A Japanese Family with < b > < i > DICER1 < /i > < /b > Syndrome Found in Childhood-Onset Multinodular Goitre
Conclusion: A thyroid nodule was detected in chemotherapy- or radiotherapy-na ïve patient withDICER1 carrier aged 6 years, and MNG developed over 3 years. This pedigree highlights the natural history of nodular disease inDICER1 carriers and identifies a possible association betweenDICER1 and more aggressive malignancies.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - October 20, 2020 Category: Endocrinology Source Type: research