Endocrine Abstracts

Carney complex is a rare hereditary syndrome with an autosomal dominant inheritance pattern that manifests itself with a set of specific symptoms. Case presentation. 32-year-old woman was admitted to the endocrinological hospital with an active stage of acromegaly. From the anamnesis it is known that at the age of 11, the height was 172 cm. The diagnosis of acromegaly was established at the age of 28 years: IGF-1 673.8 ng/ml (78–311), pituitary gland with para(d)-sellar s...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...

Hypercortisolism due to Cushing disease is an extremely rare condition in children under one year of age. We present a case of a 10-month-old boy with lung cystic dysplasia and pituitary blastoma (ACTH-secreting). The disease manifested with symptoms of hydrothorax due to cystic dysplasia of the right lung’s upper lobe. Surgical resection of the affected area has been carried out. Symptoms of endogenous hypercortisolism appeared soon after lung surgery. Cushing disease du...