Journal of Clinical Research in Pediatric Endocrinology

OBJECTIVE: Patients with congenital adrenal hyperplasia require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described. In adolescence, visceral obesity, hypertension, hyperinsulinism and insulin resistance come into focus. To date, systematic studies of glucose profiles are lacking. METHODS: We conducted a monocentric prospective observational study to determine the glucose profiles under different treatment regimens...

OBJECTIVE: Current peak serum cortisol cutoffs for the diagnosis of adrenal insufficiency (AI) after Cosyntropin stimulation have been established using polyclonal antibody (pAb) immunoassays. However, new and highly specific cortisol monoclonal antibody (mAb) immunoassays are being used more widely which can potentially yield higher false positive rates. Thus, this study aims to redefine the biochemical diagnostic cutoff points for AI in children when using a highly specific cortisol mAb immunoassay and liquid chromatography tandem mass spectrometry (LC/MS) to avoid unnecessary steroid use...

OBJECTIVES: To estimate the incidence rate and analyse the trend in type 1 diabetes among children aged 0-14 years in the West, South, and Tripoli regions of Libya. METHODS: A retrospective study was conducted on Libyan children aged 0-14 years with a new diagnosis of type 1 diabetes who were admitted and/or had their follow-up at Tripoli Children's Hospital during the period 2004 to 2018. The data were used to estimate the incidence rate and the age-standardized incidence rate per 100,000 population in the studied region for the years 2009-2018...

PURPOSE: This study was planned to examine the effect of blue light exposure and exposure time on puberty. METHODS: Eighteen 21-day-old female Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were exposed to blue light(450-470nm/irradiance level 0.03uW/cm2) for 6 hours and 12 hours, respectively...

Obesity derives from impaired central control of body weight, implying interaction between environment and an individual genetic predisposition. Genetic obesities including monogenic and syndromic obesities are rare and complex neuro-endocrine pathologies where the genetic contribution is predominant. Severe and early-onset obesity with eating disorders associated with frequent comorbidities make these diseases challenging. Their current estimated prevalence of 5-10% in severely obese children is probably underestimated due to the limited access to genetic diagnosis...

The present study aims to investigate islet autoimmunity and susceptibility to type 1 diabetes (T1D) in children/adolescents with autoimmune thyroid disease (AITD, and family members of AITD patients with islet autoimmunity. Islet-cell cytoplasmic, glutamic-acid decarboxylase, and tyrosine-phosphatase autoantibodies were measured in 161 AITD patients [(127 with autoimmune thyroiditis (AT); 34 with Graves' disease (GD)], 20 family members of AITD patients with islet autoimmunity, and 155 age-matched controls...

INTRODUCTION: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems with this syndrome may include cardiac abnormalities, immune dysfunction, facial dysmorphism, endocrine, genitourinary and gastrointestinal problems, and developmental delay. This study aims to evaluate and present all endocrinological findings of patients with 22q11.2 DS. MATERIALS AND METHODS: The seventeen participants in this study were all FISH confirmed 22q11...

Homozygous or compound heterozygous mutations in insulin receptor gene (INSR) lead to marked insulin resistance and hyperglycaemia in Donohue syndrome and Rabson-Mendenhall syndrome, conditions which are associated with significant morbidity early in life. On the other hand, heterozygous INSR gene mutations result in milder phenotype known as type A insulin resistance syndrome. While presentation in adults with this condition is well reported, phenotypes in infant are less well-characterized. We herein report an infant presenting with hyperinsulinemic hypoglycaemia who did not respond to diazoxide therapy...

Thyroid storm is a rare but life-threatening condition mainly triggered by infection and abrupt discontinuation of antithyroid drug therapy for Graves' disease. Pancytopenia is a rare adverse reaction to antithyroid drugs. We present a 13-year-old girl with thyroid storm and pancytopenia with symptoms similar to those of methimazole-induced pancytopenia. Although in this context the use of methimazole is still under debate, due to multiple normal complete blood counts monitored during fever, sepsis-induced pancytopenia with thyroid storm was considered, and methimazole treatment combined with methylprednisolone and meropenem was able to resolve both pancytopenia and thyroid storm...

Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY Disorders of Sexual Development (DSD) is characterized by complete gonadal dysgenesis and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth. 46, XY gonadal dysgenesis involves a high risk of gonadoblastoma development with malignant potential such that the onset is greatest at or after the event of puberty...

Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease resulting in hypopituitarism of variable degree. Serious courses, due to severe combined pituitary insufficiency, are even rarer and associated with a very early manifestation immediately after birth. First clinical signs are elusive and lead to delayed diagnosis and treatment, often resulting in life-threatening complications. Objective of the current report is to point out early leading symptoms and key issues of neonatal manifested PSIS to increase the awareness, improve the clinical management and thereby enable an early diagnosis and treatment to prevent further complications...

Leydig cell tumors are the most common type of testicular sex cord stromal tumors. Presence of Y chromosome is associated with tumor risk in sex development disorder (DSD), however tumor development without Y chromosome are extremely rare. A 16-year-old boy diagnosed with Leydig cell tumor due to a mass in the right testis was referred after the right orchiectomy. In physical examination, left testis was 10 ml, and a labium residue in penoscrotal region with bilateral gynecomastia was present. Karyotype was 46,XX, and SRY was double-positive in FISH analysis...

INTRODUCTION: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor and is responsible for more than 50% of cases. The frequency and severity of diabetic ketoacidosis in children with T1DM, before and during the coronavirus disease 2019 outbreak were evaluated in order to identify its effects on DKA incidence. METHODS: COVID-19 pandemic group comprised new onset T1DM patients presenting from March 2020 to March 2021...

OBJECTIVE: A significant rise in the number of trans adolescents seeking medical interventions has been reported in recent years. In this study, we aimed to report the clinical features, treatment, and follow-up of adolescents with gender dysphoria (GD) with our increased experience. METHODS: Twenty-six male-to-female (MTF) and twenty-seven female-to-male (FTM) adolescents who were referred to our GD-outpatient clinic between the years 2016 and 2022 were reviewed...

OBJECTIVE: We aimed to evaluate the adverse events seen after COVID-19 vaccines in pediatric patients with endocrinological problems and to compare them with healthy controls. METHODS: In this cross-sectional study, patients aged 12-18 years who applied to our department between January and May 2022 and were followed up for at least six months due to endocrine diseases, and healthy subjects in the same age group who had received a COVID-19 vaccine [BNT162b2 mRNA or inactivated vaccine] were included...

BACKGROUND: Differentiated thyroid cancer (DTC) in adolescents is a rare disease with favorable outcome, despite higher rates of cervical lymph node and pulmonary metastasis compared to adults. Aim of this study was to critically evaluate its treatment. METHODS: Patients receiving postoperative radiojodine treatment (RAIT) for DTC between 2005 and 2020 at our institution were screened to identify adolescents according to the WHO definition (10-19 years of age). Demographics, clinico-pathologic characteristics, treatment and outcome were analyzed...

INTRODUCTION: Body weight (BW) and body surface area (BSA)-based dosing regimens have been recommended for recombinant human growth hormone (rhGH) replacement, with the assumption that they are equally efficacious. We wanted to determine if higher or lower treatment may result from either of the two regimens based on the initial prescribed doses and the growth responses of the patients throughout the first year of therapy. METHODS: The retrospective study included 60 children from two different centers, aged 1-18 years, with the diagnosis of idiopathic isolated growth hormone deficiency(IGHD)...

4H syndrome is a rare progressive hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the 3 classic features of 4H syndrome. Biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K gene cause 4H leukodystrophy. Herein, we present clinical features in two siblings with 4H syndrome. The first patient (16 years) presented hypogonadotropic hypogonadism, euthyroid Hashimoto's thyroiditis and type 1 diabetes mellitus. The second patient (13.5 years) showed normal physical, biochemical and hormonal examination at presentation...

OBJECTIVE: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM). METHODS: The sample consisted of 110 children, aged between 4-17 years and their mothers. The patients had been diagnosed with T1DM for at least one year, and had attended pediatric endocrinology outpatients or were hospitalized in a single center...

Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction, dysmorphism, abnormal skin, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, renal and cardiac abnormalities. We present two siblings of Turkish origin with early-onset form of transaldolase deficiency and hypergonadotropic hypogonadism in both sexes. The girl (index) was followed-up with cryptogenic cirrhosis, leukopenia and thrombocytopenia, skin abnormalities, congenital heart defects, hypercalciuria, nephrolithiasis, proteinuria, chronic kidney disease throughout childhood...