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 spread (11×13×9 mm). She did not receive prescribed somatostatin analogs. At the present examination at the age of 32 years: acromegalic clinical features, no skin leisures, weight 71.6 kg, height 173.5 cm, IGF-1 – 475.8 ng/ml, pituitary adenoma was the same size. The examination also revealed endogenous ACTH-independent hypercortisolism: an increase in salivary cortisol (evening) – 11.86 nmol/l (0.5–9.65) and free cortisol in daily urine – 1485.8 nmol/day (100–379), a decrease in ACTH – 1.2 pg/ml (7.2–63.3), according to MSCT – a picture of nodular hyperplasia of both adrenal glands. At the age of 25, she was observed for euthyroid multinodular goiter, at the onset, TAB – Bethesda II was performed, during the present examination, an increase in the node size the left lobe to 15×16×33 mm was noted, with TAB Bethesda IV.

At the age of 27, resection of the left mammary gland was performed due to fibrocystic mastopathy and intraductal papilloma. At the age of 29 years, echocardiography showed a left atrial myxoma, which was surgically removed with histological confirmation of this type of tumor. Given the young age of the patient and the onset of the disease, the presence of multiple neoplasia, heart myxoma in anamnesis and in mother, a genetic study was carried out: in the PRKAR1A gene (NM_212472.2) in the 8th exon, a previously undescribed variant was found (HG38, chr17:68527885delAA, c.755_756del) in the heterozygous state, leading to a deletion of two nucleotides and a shift in the reading frame of p.K252Sfs*17 with a coverage depth of 210×. The variant does not appear in the gnomAD population frequency database. The variant most likely results in the loss of function of the corresponding copy of the gene.

The patient was successfully operated on pituitary adenoma. Of thyroid tumor and Cushing’s syndrome, the patient refused. The study of the variability of the components of this syndrome should help various specialists diagnose a rare hereditary pathology.