ESPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of Disorder of Sex development (DSD). It is a group of autosomal recessive disorders caused by deficiency of enzymes involved in synthesis of cortisol, aldosterone or both. The combination of hypocortisolism, hyperandrogenism and adrenal medullary hypofunction due to the disease and side effects of steroids treatment may make these individuals more prone to develop cardiovascular disorders including impa...

Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compart...

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...

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

Introduction: More than 1,106,500 worldwide children were living with type1 diabetes mellitus (T1DM) in 20171. Researchers concluded that better glycaemic control is associating with lesser complications of this chronic condition. Target HbA1c is recommended to be <48mmol/mol(<6.5%) and <53mmol/mol(<7%) as per NICE and ISPAD respectively2. The glycaemic control represented by HbA1c was worse amongst the British gir...

Type 1 diabetes mellitus (T1DM) may be associated with reduced bone mineral density (BMD). Possible pathogenic mechanisms include impaired bone anabolic effect due to decreased insulin and insulin-like growth factor 1 (IGF-I). In addition, hyperglycemia can impair osteoblast function.We measured anthropometric data, glycemic control (HbA1C), insulin dose /kg, calcium, PO4 and alkaline phosphatase and BMD by (DEXA scan at the spine (L2–L4) and at the...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Purpose: The aim of this study was to identify risk factors for adult obesity in childhood solid cancer or lymphoma survivors (CCS).Patients and Methods: The study included 3199 patients of the French Childhood Cancer Survivor Study Cohort (FCCS) with 303 obese patients who had returned self-questionnaire. Analyses were adjusted on social deprivation index and sex.Results: CCS bein...

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.Case report: This is a ...