ESPE Abstracts

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...

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: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

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: Introital stenosis is the main complication of vaginoplasty in females with Congenital Adrenal Hyperplasia (CAH) which could result from poor estrogenization of vaginal tissue during puberty.Objective and hypotheses: To evaluate the maturation of vaginal mucosa depending on the degree of compensation.Method: 19 adolescent girls with CAH (salt-wasting (SW) – 9, simple virilizing (SV) – 10; 15.9 years (14.4, 16....

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...

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...