ESPE Abstracts

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Background: Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. The phenotype shows variable expressivity and is related to the size of the deletion. XY sex reversal is a relatively rare type of DSD (disorder of sexual development). Terminal region of short arm chromosome 9p (9p24.3 region) contains 3 types of DMRT genes (DMRT1-3). DMRT1 gen acts in syner...

Introduction: Clitoral hypertophy can be congenital or acquired, and is usually associated with prenatal and/or postnatal exposure to androgens. Pathophysiological mechanisms responsible for transient hypertophy of the clitoris in female infants born extremely prematurely have not been fully elucidated.Case report: We present the case of an extremely premature female infant, born at 27+5 weeks of gestation, wi...

Background: Laboratory evaluation is crucial for accurate assessment of patients with endocrine disorders. When clinical picture is in obvious contradiction with laboratory results, one should suspect and prove analytical interference.Case presentation: a 6.7-year-old girl presented with sexual and axillary hair accompanied by adult-type body odor. She was tall (height SDS 2.6), with no other signs of virilisation and no...

Objective: To evaluate the level of 25 (OH) D – vitamin in obese adolescents living in the South of Russia.Materials and method: We examined 20 obese adolescents with varying degrees of severity, aged 15.5±0.3 years, ten girls and boys. The comparison group consisted of ten healthy adolescents matched for age and sex. Obesity was calculated by BMI. Level of 25-(OH) D – vitamin was studied in the laboratory by ELISA (nmol/l). Furthermore, t...

Background: Obesity is one of the most frequent chronic diseases in the world, however the true prevalence of obesity in the RF remains at the moment insufficiently studied.Aims: To study the age features of the prevalence obesity in boys in the Udmurt Republic - the region in European part of the Russian Federation with the children population of 335 000.Methods: 4795 boys aged 1–17 years were surveyed, among them 2368 (49.4%...

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

Introduction: GATA6 is a gene that encodes a zinc transcription factor with a key role in the development of several organ systems, as evidenced by the many congenital malformations that have been associated with its mutation. GATA6 plays a role in gut, lung, pituitary, and heart development, with broad expression in developing heart tissue and close link with pancreatic agenesis/hypoplasia. Most cases present with neonatal Diabetes, but a small proportion dev...

Introduction: Brain-lung-thyroid syndrome (BLTS) is a rare autosomal dominant or de novo condition that occurs in early childhood, associated with mutations of the NKX2-1 (Thyroid transcription factor 1) gene present in chromosome 14q13. This protein plays a critical role during organogenesis of basal ganglia, lungs, including surfactant production and homeostasis, and thyroid. The clinical spectrum varies from the complete triad of brain-lung-thyroid...