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...

Background: Klinefelter syndrome (KS) is a frequent anomaly of sex chromosomes, due to the presence of an extra X chromosome (one or more) in the karyotype 46, XY. This disease is characterized by hypergonadotropic hypogonadism and a high risk of developing disorders of carbohydrate and fat metabolism, despite the absence of a pronounced androgen deficiency in adolescents with KS. There are reports of changes in body composition in adolescents with KS even bef...

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

Background: Infertility is one of the major problems in adult males with congenital adrenal hyperplasia (CAH), associated with the development of testicular adrenal rest tumors (TART). Sertoli cell dysfunction could be diagnosed not only in adults but in adolescence.Objective and Hypotheses: To study Inhibin B and AMH levels in adolescents with CAH and TART and its diagnostics value in access of Sertoli cell function.Method: We stu...

Background: Testicular adrenal rest tumor (TART) is one of the main causes of decreased fertility in men with congenital adrenal hyperplasia (CAH). TART may occurs in childhood but there is no currently identified factors influencing the development of this condition.Objective and hypotheses: To study the role of glucocorticoid and mineralocorticoid undertreatment in the TART development in children and adolescents with CAH, 21-hydroxylase deficiency.</p...

Keywords: Primary adrenal insufficiency, X-linked adrenoleukodystrophy, early manifestationBackground: The primary adrenal insufficiency (PAI) in patients with X-linked adrenoleukodystrophy (X-ALD) is known to develop commonly after three years of life and there are little cases with an early manifestation described. Here we report cases of early PAI manifestation in X-ALD patients.Clinical...

Background: Congenital isolated hypogonadotropic hypogonadism (&Scy;IHH) 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...

Background: Hypogonadotorpic hypogonadism is a heterogeneous disease which is often accompanied by a variety of non-reproductive congenital phenotypes such as anosmia, synkinesia, deafness, renal or limbs malformations. The combination of hypogonadotropic hypogonadism with congenital defects is crucial to early diagnosis.Result: Our patient is a 13,5-year-old boy. He was born at 39-40 weeks of gestation, birth length was...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: &scy;ongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...