ESPE Abstracts

Background: Recent work revealed two pathways in androgen biosynthesis, namely the classic and an alternative, the backdoor pathway. In this alternative pathway dihydrotestosterone is produced from 17-hydroxyprogesterone without the intermediacy of testosterone using mostly enzymes that are specific to the backdoor path. In the human ovary, regulation of androgen production plays a crucial role in normal physiology and in pathologies such as the polycystic ovary syndrome (PCOS...

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

Background: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

Cafe au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, liver and cardiac dysfunction have been described as presenting features of neonatal McCune Albright Syndrome (MAS). Despite being defined, neonatal diabetes mellitus due to hypercortisolism is a rare presenting feature. Outcome of patients presenting in neonatal period is usually unfavorable, tthough spontaneous resolution of hypercortisolism have been reported. Newborn girl was born at 38 weeks of gestation v...

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

The calcium-sensing receptor (CaSR) is a member of the G protein coupled receptor family. It is mostly found in the parathyroid gland and renal tubule. CaSR disorders occur with inherited or acquired mutations. Familial hypocalciuric hypercalcemia syndromes are associated with inactivating mutations in CaSR. The heterozygous form is “benign familial hypercalcemia” and the homozygous form is “neonatal hyperparathyroidism”. In this article, “benign ...