hrp0094p2-12 | Adrenals and HPA Axis | ESPE2021

Defective Cortisol Secretion in Response to Spontaneous Hypoglycemia but Normal Cortisol Response to ACTH stimulation in neonates with Hyperinsulinemic Hypoglycemia (HH).

Ahmed Shayma , Soliman Ashraf , Alyafie Fawzia , Alaaraj Nada , Hamed Noor , Farag Marwa ,

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is the most common cause of recurrent and persistent hypoglycemia in the neonatal period. Cortisol and GH play an important role as counterregulatory hormones during hypoglycemia. Both antagonize the peripheral effects of insulin and directly influence glucose metabolism.Patients and Methods: We studied cortisol and GH secretion in newborn infants with HH during spontaneous hypoglycemia....

hrp0094p2-142 | Diabetes and insulin | ESPE2021

Affective response of newly diagnosed Type1 diabetes parents: An experience of a developing country.

Ayub Aqeela , Shamsher Maria , Aftab Sommayya , Parveen Asmat , Shahid Gulbin , Butt Taeed Ahmed ,

Background & objectives: An important aspect of managing type 1 diabetes is to identify and address the apprehensions of patients and parents of newly diagnosed type 1 diabetes. Understanding parental difficulties in managing type1 diabetes and promptly dealing them will surely affect the short and long-term outcome in children. The aim of this study was to determine the affective response of parents after the diagnosis of type 1 diabetes in a developing c...

hrp0094p2-164 | Diabetes and insulin | ESPE2021

The Impact of COVID 19 Pandemic on Type 1 Diabetes Mellitus: An experience of a Tertiary Care Hospital in a resource limited country

Ayub Aqeela , Ijaz Sadaf , Qudrat Syeda Mamoona , Rani Tanzeela , Raziq Abdur , Ali Muhammad , Butt Taeed Ahmed ,

Background and Objectives: Managing type 1 diabetes (TIDM) in covid pandemic is a real challenge in resource limited countries like Pakistan. This study was aimed to determine the effects of covid 19 in managing type 1 diabetes in resource limited countries.Methods: Cross-sectional observational study, included all type 1 diabetes patients who were already enrolled in endocrine and diabetes clinic and were on regular fol...

hrp0094p2-241 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Incidence of early neonatal hypoglycemia and some related risk factors in Qatar. A cohort study over two years (2018 and 2019)

Soliman Ashraf , Ali Hamdy , Alaaraj Nada , Alyafei Fawzia , Hamed Noor , Ahmed Shaymaa ,

Objective: The objective of this study is to determine the incidence of early neonatal hypoglycemia and to confirm potential risk factors.Study design: The study was conducted at a tertiary Medical Center in Qatar. between January 2018 and December 2019. First blood glucose concentrations of all infants admitted to the nursery were measured using a "point of care" analyzer (Accu-Chek). We recorded risk factors for hypoglycemia su...

hrp0094p2-243 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Postnatal linear growth and weight gain in infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia.

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Itani Maya , Al-Naimi Fatima ,

Preterm babies born to non-diabetic mothers (INDM) who experience significant hypoglycemia may have postnatal growth abnormalities. This study evaluated the growth pattern from birth to the age of 2 years of 40 INDM who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 40 INDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/dl (1.1-1.4 mmol/l) th...

hrp0094p2-392 | Pituitary, neuroendocrinology and puberty | ESPE2021

Late Puberty In Children

Asmae Touzani , Mohamed Boualam , Nouzha Rami , Yamna Kriouile , Zineb Imane , Abdellah Dami , Lhoucin Balouch , Ahmed Gaouzi ,

Objectives: This retrospective and descriptive study aim to study the frequency of children who have a pubertal delay and who are followed at the Department of Pediatrics II at the Children’s Hospital of Rabat. Materials and Methods: Among 1850 records collected, 24 patient records that meet the criteria for inclusion. A delay in the appearance of sexual characters: the lack of breast development after the age of 13.5 years in the girl and the lack of inc...

hrp0097rfc12.2 | Thyroid | ESPE2023

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Blackburn James , Ahmed Shahida , van Meijgaarden Birgit , Gaston-Massuet Carles , Gevers Evelien

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

hrp0097t4 | Section | ESPE2023

Functional characterization of novel MC4R gene variant in two unrelated patients with morbid obesity

Mohammed Idris , Selvaraj Senthil , Ahmed Wesam , Albarazenji Tara , Al-Shafai Mashae , Hussain Khalid

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

hrp0097p1-12 | Adrenals and HPA Axis | ESPE2023

Growth and Metabolic Syndrome (MetS) Criteria in children with Classic Congenital Adrenal Hyperplasia (CAH) treated with corticosteroids (CS) versus normal obese children.

Shayma El Sayed , Ashraf Soliman , Noor Hamed , Shayma Ahmed , Fawzia Alyafei , Nada Alaaraj

Introduction: Management of CAH presents unique challenges distinct from other forms of adrenal insufficiency. Higher doses of glucocorticoids are required to suppress adrenal androgen synthesis, which can lead to overtreatment. Steroid-associated adverse events (SAAE) include hypertension, hyperglycemia, and diabetes, overweight and obesity and short stature.Aim: The goal of this study was to assess the occurrence of st...

hrp0097p1-409 | Adrenals and HPA Axis | ESPE2023

Hydrocortisone (HC) versus Prednisone(P) Therapy in treating Children with Classic Congenital Adrenal Hyperplasia (CAH): Impact on statural growth weight gain and metabolic criteria

El Sayed Shayma , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia , Alaaraj Nada

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...