Endocrine Abstracts

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare worldwide. Incidence of CAH - autosomal recessive disorders characterized by enzyme defect of steroidogenic pathway, of which 90% ocuurs in the CYP21A2 gene coding 21-hydroxylase is 1:10000-16000. Incidencie of Turner syndrome is 1:2500 worldwide. Phenotypically, females with TS may present with a wide spectrum of clinical features. They may exhibit short stature, virilization, prema...

Aims: Polyglandulare Autoimmune Sydnrome (PAS) is a rare disease and the development during pregnancy is seen even less often. PAS Type II presents with autoimmune adrenalitis and thyroiditis. Symptoms of adrenalitis such as hypotension and hyperpigmentation are overlapping with physiological manifestations during pregnancy making the diagnosis difficult.Clinical presentation: We are reporting the case of a 28-year old prima para prima gravida presenting...

Functional hypogonadism has been described in association with acute severe medical or surgical illness, subacute recovery and chronic disease. We present a case of transitory hypogonadism manifested during a peri-surgical period. A 42-year-old patient was sent to the endocrinology clinic due to hypertension and a solitary adrenal mass. He was treated with bisoprolol and telmisartan, that he maintains until today. The evaluation favoured non-functional adenoma but during the f...

Introduction: Congentital adrenal hyperplasia (CAH) comes to adult endocrinologist wheather as transition from pediatritian (Case 3) or as still without diagnosis (Case 1, 2, 4). The aim of this work is to describe typical forms of CAH initially sucessfuly treated with dexamethasone therapy.Case descriptions: Case 1: female, 1972y., presented in 1995y. (23y.) as severe hirsutism and infertility managed by team of gynecologists. She refus...