ESPE Abstracts

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Background: With the increase of overweight prevalence an increasing number of women develop gestational diabetes.Objective and hypotheses: We evaluated the growth of 6902 children of mothers with gestational diabetes. The secular trends in the prevalence of children with gestational diabetes in mothers was studied during 30 years.The material consisted of children born 1974 (n=1108), 1981 (n=977), 1991 (n</em...

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

Background: Periventricular nodular heterotopia (PNH) is a brain malformation caused by dysregulation of neuronal migration during cerebral development, resulting in nodular neuronal structures in the ventricular surface. Associated ectopy of the posterior pituitary has been reported in literature and is usually associated with deficiencies of the anterior pituitary. The occasion of an isolated central diabetes insipidus due to absence of the posterior pituita...

Background: Congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. About 90% cases nephrogenic diabetes insipidus is an X-linked recessive disorder caused by variants in the AVP V2 receptor gene (AVPR2). In the remaining cases (10%) the disease is autosomal recessive or dominant and, for these patients, variants in ...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

Background: The gene expression microarray and morphoproteomics in diffuse congenital hyperinsulinism (CHI) revealed activation of the mammalian target of rapamycin (mTOR) pathway and the subsequent treatment of four diffuse CHI patients with sirolimus (mTOR inhibitor) avoided pancreatectomy.Objective and hypotheses: To further evaluate the mechanism of action of sirolimus by studying the expression of mTORC1/RagGTPase and IGF1R/mTORC2/Akt pathways in pa...