hrp0098rfc8.6 | Adrenals and HPA Axis 2 | ESPE2024

Prospective evaluation of urinary outcome after partial urogenital sinus mobilization (PUM) for toilet trained female patients with classic congenital adrenal hyperplasia (CAH).

Arafa Noha , Ahmed Ateya Mohamed , Hassan Hafez Mona , Morsi Hani , M Shouman Ahmed

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...

hrp0098p1-54 | GH and IGFs 1 | ESPE2024

Should MRI Be Performed on the Pituitary Gland in Short Stature Children with Peak Growth Hormone Levels Between 5 and 7 Micrograms/Liter Following Provocation Tests?"

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , Qusad Mohamed , Elsiddig Sohair

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,...

hrp0098p1-55 | GH and IGFs 1 | ESPE2024

The Relation Between Serum Glucose and Growth Hormone Concentrations During Standard Glucagon Test for GH Release in Short Stature Children

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , Zirak Hendeh , Elsiddig Sohair , Qusad Mohamed

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...

hrp0098p1-306 | Late Breaking 2 | ESPE2024

Role of Cubulin gene variants in the development of microalbuminuria in children with type1 diabetes

Arafa Mohamed Hussein Aly Noha , Anter Aisha , Abdullatif Mona , Sharaf ElDin Heba

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 ...

hrp0098p2-4 | Adrenals and HPA Axis | ESPE2024

Pitfalls in diagnosis of Congenital Adrenal Hyperplasia due to 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency – A Problem of Assay Interference

Balagamage Chamila , Stirling Heather , Igbokwe Rebecca , Taylor David , Mohamed Zainaba , Idkowiak Jan

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...

hrp0098p2-75 | Diabetes and Insulin | ESPE2024

Rabson Mendenhuall Syndrome: the phenotype, genotype and management in a cohort of Sudanese children

A Shatta Jouyriah , S Hassan Samar , A Musa Salwa , T Abdullah Asmahan , O Babiker Omer , A Abdullah Mohamed

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...

hrp0098p2-142 | GH and IGFs | ESPE2024

Comparative Study of Glucose Response to Intramuscular Glucagon in Pediatric Growth Hormone Deficiency and Idiopathic Short Stature: What is the risk of hypoglycemia?

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , Zirak Hendeh , Elsiddig Sohair , Qusad Mohamed

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...

hrp0098p2-366 | Late Breaking | ESPE2024

The genomic landscape of children with short stature presenting to a tertiary hospital in UAE.

Jacob Anju , Gharaibeh Sarah , Jain Ruchi , Taylor Alan , Shenbagam Shruti , AbuTayoun Ahmad , Elabiary Mohamed , Thalange Nandu

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 ...

hrp0098p3-125 | GH and IGFs | ESPE2024

Impact of Sex Steroid Priming on Growth Hormone Stimulation in Children with Short Stature: A Comparative Study"

Alyafei Fawzia , Hamed Noor , Alaaraj Nada , Elsayed Nagwa , Qusad Mohamed , Soliman Ashraf

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...

hrp0098p3-128 | GH and IGFs | ESPE2024

Enhancing Diagnostic Accuracy in Growth Hormone Deficiency: A Comparative Analysis of Sex Steroid Priming in Pediatric Short Stature

Alyafei Fawzia , Soliman Ashraf , Qusad Mohamed , Hamed Noor , Alaaraj Nada , Ahmed Shayma , Elsayed Nagwa , Elsiddig Sohair

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...