ESPE Abstracts

Objective: to assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 patients with Kallmann syndrome...

Introduction: Hashimoto's autoimmune thyroiditis is the primary cause of acquired hypothyroidism, with encephalopathy being a rare complication, particularly in children. Early and accurate diagnosis is crucial, as appropriate treatment is usually successful, while untreated cases can result in permanent impairment.Case presentation: A 17-year-old girl complained of numbness on the right side of her body and tongue,...

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 ...

Background: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...

Background: Congenital isolated hypogonadotropic hypogonadism (СIHH) is a clinically and genetically heterogenous disorder characterized by absence or abnormal gonadotropin-releasing hormone secretion (GnRH). Adolescents with CIHH have complete or partial pubertal failure. Pathogenic variants in more than 60 genes have been associated with CIHH. CIHH can be complete, partial or reversal. Boys with CIHH may have micropenis and cryptorchidism. Except reprodu...

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condit...

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometri...

Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation in CHD7. Hypoplasia of the genitalia is a common feature and is most often attributable to hypogonadotropic hypogonadism which is described in 81% of the males and 93% of the female patients. Other genital anomalies are rare. Combined agenesis of the uterus and ovaries is so far only reported in one patient with sus...

Background: Patients with 21-Hydroxylase deficiency (21OHD) present increased levels of cytochrome P450 21-hydroxylase substrates, like progesterone and 17α-hydroxyprogesterone. Previous studies could show that these hormones are involved in the production of androgens via the backdoor pathway. As a second source of androgens, 11-oxyandrogens derived from the human adrenal glands are recognized as being major androgens. Specifically, 11-oxyandrogens ...