Anterior Pituitary Hormones are Important in Growth, but does their Deficiency Cause Skeletal Deformity? A Case Report.

Hypopituitarism is a clinical syndrome that occurs when the anterior pituitary gland fails to secrete one or more hormones. Developmental delay is frequently seen in these patients. However, skeletal deformities and postural instability are unexceptional.

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Background: It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events.

Aim: Study temporal trends of AI related AE in the I-CAH Registry.

Methods: In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019.

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.

Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development.

The Prevalence of Obesity Among Children With Type 2 Diabetes: A Systematic Review and Meta-analysis.

Importance: The childhood obesity epidemic is presumed to drive pediatric type 2 diabetes (T2D); however, the global scale of obesity in children with T2D is unknown.

Objectives: To evaluate the global prevalence of obesity in pediatric T2D, examine the association of sex and race with obesity risk, and assess the association of obesity with glycemic control and dyslipidemia.

Data Sources: MEDLINE, Embase, CINAHL, Cochrane Library, and Web of Science were searched from database inception to June 16, 2022.

Is there a secular trend regarding puberty in children with down syndrome?

Introduction: There are very few studies on the age of onset and end of puberty in children with Down syndrome (DS). Also, data regarding the course of puberty in these children compared to their healthy peers is limited. Moreover, there is limited information regarding the effects of factors such as obesity and hypothyroidism on the puberty process in children with DS.

Increased Severe Cases and New-Onset Type 1 Diabetes Among Children Presenting With Diabetic Ketoacidosis During First Year of COVID-19 Pandemic in Turkey.

Introduction: There have been some significant changes regarding healthcare utilization during the COVID-19 pandemic. Majority of the reports about the impact of the COVID-19 pandemic on diabetes care are from the first wave of the pandemic. We aim to evaluate the potential effects of the COVID-19 pandemic on the severity of diabetic ketoacidosis (DKA) and new onset Type 1 diabetes presenting with DKA, and also evaluate children with DKA and acute COVID-19 infection.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Psychometric Properties of the Turkish Version of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes.

Objective: Resilience in diabetes refers to the capacity overcome diabetes-related challenges to achieve favorable psychosocial and health outcomes. Despite the known benefits of resilience in adolescents with type 1 diabetes mellitus (T1DM), there tends to be more emphasis on risk factors in research and practice. This study evaluated the psychometric properties of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes (DSTAR-Teen) in Turkey.

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.

Objectives: International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed.

Aim: To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0-3 years.

Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.

In this article international trends in surgical practice in girls with congenital adrenal hyperplasia (CAH) are evaluated. All cases that had been classified in the I-CAH/I-DSD registry as 46,XX CAH and who were born prior to 2017 were identified. Centers were approached to obtain information on surgical decision making.

Gonadectomy in conditions affecting sex development: a registry-based cohort study.

Objectives: To determine trends in clinical practice for individuals with DSD requiring gonadectomy.

Design: Retrospective cohort study.

Methods: Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist centre; and location of centre from cases reported to the International DSD Registry and who were over 16 years old in January 2019.

Molecular Analysis of Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Context: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the gene. encodes an enzyme of 25-hydroxyvitamin D-1α-hydroxylase for converting inactive 25-OHD to biologically active 1,25-(OH)D.

Objective: To identify underlying genetic defects in patients with VDDR1A.

Hypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome.

Pituitary hormone deficiencies may occur in children with midline defects; in these cases, hypogonadism is usually hypogonadotropic. Herein, we report a boy at the age of 13.8 years with mild mental retardation, previously operated for complete cleft palate (isolated) and presented with hypoglycemia due to isolated secondary adrenal insufficiency, who further had a decrease in testicular size with increased follicle-stimulating hormone level (hypergonadotropic hypogonadism) and diagnosed with Klinefelter syndrome.

Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.

Background: Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear.

Methods: Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income Countries (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analyzed to examine the clinical factors associated with SDE and AC.

Results: A total of 518 children-with a median of 11 children (range 1, 53) per center-had 5388 visits evaluated over a total of 2300 patient-years.

Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers.

Objectives Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia, whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1.25(OH)2D; mutations in SLC34A1 encoding renal sodium phosphate cotransporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropriate activation of vitamin D. The presence of mutations in both genes has not been reported in the same patient until today.

Associated clinical abnormalities among patients with Turner syndrome.

Objective: The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. This study aimed to investigate clinical features and identify associated abnormalities in a group of patients with TS.

Methods: Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS.

Different Potent Glucocorticoids, Different Routes of Exposure but the Same Result: Iatrogenic Cushing’s Syndrome and Adrenal Insufficiency.

Objective: Potent glucocorticoids (GC) cause iatrogenic Cushing’s syndrome (ICS) due to suppression of hypothalamo-pituitary-adrenal (HPA) axis and may progress to adrenal insufficiency (AI). The aim was to review the clinical and laboratory findings of patients with ICS and to investigate other serious side effects.

Methods: The possibility of AI was investigated by low-dose adrenocorticotrophic hormone test.

Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.

Context: The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases.

Objective: To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency.

Design: Multicenter, cross-sectional study.

Lipid accumulation product is a predictor of nonalcoholic fatty liver disease in childhood obesity.

Background: Lipid accumulation product (LAP) is associated with the presence and severity of nonalcoholic fatty liver disease (NAFLD) in adults.

Purpose: Here we evaluated the ability of LAP to predict NAFLD in obese children.

Methods: Eighty obese children (38 girls; age 6-18 years) were included.

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.

Context: No consensus exists for optimization of mineralocorticoid therapy in patients with primary adrenal insufficiency.

Objective: To explore the relationship between mineralocorticoid (MC) replacement dose, plasma renin concentration (PRC), and clinically important variables to determine which are most helpful in guiding MC dose titration in primary adrenal insufficiency.

Design: Observational, retrospective, longitudinal analysis.

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.

Background: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established.

Objective: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey.

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015.

Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated.

Cardiac examination in children with Laron syndrome undergoing mecasermin therapy.

Background: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS.