ESPE Abstracts

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

Background: Tumor induced osteomalacia (TIO) is clinically characterized by bowed, short and painful legs in children and bone pain if onset in adolescent or adult life. Paraclinical, TIO is characterized by hypophosphatemia, low levels of 1.25-OH2-vitamin D (1.25 OH2D), and elevated levels of fibroblast growth factor 23 (FGF23). TIO is due to tumor secretion of FGF23, which inhibits phosphate re-absorption in the proximal renal tubules a...

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

Introduction: Crooke’s cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma, it is usually large, frequently invades surrounding tissues, and is resistant to both surgery and radiotherapy.Case Report: A 13-year-old girl, admitted with weight gain for more than 3 months. Her height was 147.5 cm (-1.5 SDS), weight 58.5 kg (1.1 SDS), BMI 26.89 kg/m2 (2 SDS) and blood pressure was 100/78mmHg. Her i physical exa...

Introduction: Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here, we reported a case of Alstrom syndrome with a novel homozygous variant in the ALMS gene, who presented to our cli...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

Background: Rabson-Mendenhall syndrome is an extremely rare, autosomal recessive, severe insulin resistance syndrome that results from a mutation in the insulin receptor (INSR) gene. Currently, no more than 55 identified cases have been described in the world. Below is a clinical case with a newly diagnosed Rabson-Mendenhall syndrome in a girl in the Republic of Kazakhstan.Clinical case: A 7-year girl was admitted to the...

Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.<p ...