ESPE Abstracts

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

Endocrine complications are common among children who have finished their cancer treatment. Approximately half of those children will experience at least one hormonal disorder. The risk of endocrine deficiency is related to the child's gender and age, tumor location and therapies used (surgery, chemotherapy or radiation therapy).Aim of the study: To address the main endocrine abnormalities following cancer therapies that occurs late...

Central precocious puberty (CPP) caused by early maturation of the hypothalamic–pituitary–gonadal axis, resulting in early appearance of secondary sexual characteristics That affects children’s normal life and their adulthood’s final height. GnRH agonist therapy inhibits stimulating effects of endogenous GnRH by desensitizing hypophyseal gonadotropic cells and thus acceleration in bone maturation and early puberty is suppressed. So the aim of this longi...

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

Background: Type 1 diabetes mellitus (T1DM) is a complex metabolic disorder typically diagnosed in childhood and characterized by insufficient insulin production. Diabetic complications are still a major concern as they constitute the main cause of morbidity and mortality in diabetic patients despite the advances in T1DM treatment. Long-term complications of diabetes include retinopathy with potential loss of vision; nephropathy leading to renal failure; peripheral neuropathy ...

Background: Leydig cell tumor (LCT) is a rare testicular tumor developing from male gonadal interstitium and most common type of testicular sex cord-stromal tumor. Its incidence is about 1%–3% of all testicular neoplasms. In children only few cases had been reported and are associated with pseudo puberty.Case report: We report a case of a 4 years old boy admitted to our unit for management of precocious puberty which started one year ago with increa...

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...