ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Сlinical case: Patient M., born at 35 weeks, the first of monochorionic twins with weight 3890 g (SDS 2.85), length 53 cm (SDS 2.71). From the first hours of life, the patient experienced hypoglycemia up to 1.9 mmol/l, which was relieved by intravenous glucose with a high utilization rate of up to 15 mg/kg/min. CHI was diagnosed at the age of 1 month (glycemia 2.1 mmol/l, insulin-15.2 µIU/ml). Diazoxide therapy was prescribed - 7.3 mg/kg/day. From th...

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

Introduction: In rare cases, patients with thyroid hormone resistance syndrome may develop papillary thyroid cancer. There are only two reported cases of tumor development in children with this condition. Postoperative therapy is a difficult task, due to the persistent increase of thyrotropin (TSH) levels while receiving monotherapy with sodium levothyroxine, and the use of the drug in high doses leads to the development of thyrotoxicosis symptoms. Despite the...

Introduction: Parathyroid carcinoma (PC) is a malignant neoplasm and occurs in patients with primary hyperparathyroidism (PHPT) in less than 1% of cases. There are few descriptions of PC in children in the literature. Clinical manifestations of PHPT in children are highly variable: the disease may present with dyspeptic manifestations, symptoms of intoxication, bone deformities, urolithiasis, cholelithiasis or be asymptomatic.Mat...

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...