ESPE Abstracts

Background: Multiple endocrine neoplasia type I (MEN1) is characterized by the combined occurrence of tumours in several endocrine tissues such as parathyroid tumours, pituitary tumours (usually prolactinomas) and pancreatic neuroendocrine tumours. MEN1 is an autosomal dominant disorder caused by germline mutations in the tumour suppressor gene MEN1. First-degree relatives of a germline MEN1 mutation carrier have a 50% risk of the mutation. Intensive surveillance of g...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.<stro...

Objective: This study aims to investigate the cause of cryptorchidism in a young boy.Case report: A 12 years old boy was admitted at our department for fever and lack of appetite. During physical examination, right cryptorchidism and subcoronal hypospadias were evident. Left testicle was in scrotum and it was of 4 ml in volume. In his past clinical history, he had many urological evaluations for the right testicle and sp...

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...

Background: Graves’ disease (GD) is a rare autoimmune affection in children with a female predominance. Its prevalence is about 0,1/100 000py in children and 3/100 000 py in adolescents and characterized by more important frequency of relapse than adults after medical treatment.Aim: Is to evaluate clinical biological radiological and treatment outcome of children and adolescents affected by GD in nine Algerian hosp...

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...