ESPE Abstracts

Introduction: The complicated surgical reconstruction of verilized female patients with congenital adrenal hyperplasia (CAH) aims to achieve normal external genital appearance and to maintain normal urogenital and sexual functions.Objective: To study the urological complications including urinary incontinence, urinary tract infection (UTI) and voiding dysfunction besides assessment of cosmetic outcome after surgical corr...

Background: The precise growth hormone (GH) cut-off value for diagnosing growth hormone deficiency (GHD) in children is a subject of ongoing debate. With GH provocative tests typically using cut-offs between 4.7 and 6.5 µg/L, the traditional threshold of <10 µg/L is being reconsidered in favor of <7 µg/L due to advancements in GH assay standardization. Magnetic resonance imaging (MRI) of the pituitary gland is a crucial diagnostic tool,...

Introduction: Glucagon serves as a growth hormone (GH) secretagogue. Serial measurements of GH concentration following glucagon administration are one of the growth hormone stimulation tests (GHSTs) for assessing GH sufficiency in children with suspected growth hormone deficiency (GHD). Although intramuscular glucagon is utilized to evaluate GH secretion, the relationship between changes in blood glucose (BG) and GH during this test has not been thoroughly stu...

Introduction: Microalbuminuria is the earliest sign of diabetic nephropathy. Cubilin encoded by the CUBN gene is one of the receptor proteins accountable for albumin reabsorption in proximal renal tubules. Cubulin gene (CUBN) was identified as a significant locus for albuminuria. A strong association between CUBN variant rs1801239 and albuminuria was detected in general population.Aim of the work: The aim of the current ...

Introduction: 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency causes a rare form of Congenital Adrenal Hyperplasia (CAH) characterised by varying degrees of mineralocorticoid and glucocorticoid deficiencies with undermasculinisation in genetic males. The biochemical hallmarks are elevated androgen precursors in the delta5 pathway (dehydroepiandrosterone (DHEA) and 17-pregnenolone), with low mineralocorticoids and low (stimulated) cortisol levels. Immun...

Background: Rabson-Mendenhall Syndrome (RMS) is a rare, autosomal recessive disorder characterized by hormonal and clinical features of insulin resistance (acanthosis nigricans, hirsutism, etc.) Other clinical features may include lipodystrophy and metabolic syndrome (hypertension, non-alcoholic fatty liver disease (NAFLD), hypertriglyceridemia and polycystic ovary syndrome). Biallelic loss of function mutations in the insulin receptor gene (INSR) affect insul...

Background: The growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis is central to growth and metabolism. Growth hormone deficiency (GHD) in children can lead to metabolic disturbances and an increased risk of hypoglycemia. However, the response of blood glucose levels to glucagon in the presence of GHD compared to children with idiopathic short stature (ISS) is not well understood. This study aims to elucidate the glucose response to glucagon in thes...

Introduction: Short stature (SS) is one of the most common reasons for referral to a pediatric endocrinologist. SS is defined as a condition in which an individual's height is below the 3rd percentile for age and sex. SS may be caused by hormonal (eg. growth hormone deficiency), environmental (eg. intrauterine growth retardation) and genetic disorders (eg. Turner syndrome, Noonan syndrome). The evaluation of children presenting with SS comprises detailed ...

Introduction: Growth hormone (GH) deficiency in children with short stature poses significant diagnostic and therapeutic challenges. Sex steroid priming before GH stimulation tests (GHST) is a strategy employed to enhance the diagnostic accuracy for GH deficiency. However, the efficacy and impact of this approach remain subjects of debate.Aim: This study aim ed to evaluate the effects of sex steroid priming on various gr...

Introduction: This study presents a comparative analysis of the efficacy of sex steroid priming in enhancing growth hormone (GH) responses in short stature children undergoing GH stimulation tests.Methods: A randomized study encompassed a cohort of 40 children, divided into two groups: "With Priming" and "Without Priming". The primed group exhibited a higher peak GH response (6.53) compared to the non...