Combination of Klinefelter syndrome and the classic form of congenital dysfunction of the adrenal cortex: clinical observation

Congenital adrenal hyperplasia (CAH) is a defect in one of the enzymes or transport proteins involved in the synthesis of cortisol in the adrenal cortex. Virile form of CAH characterized by cortisol deficiency and hyperandrogenism. Klinefelter syndrome is one of the most frequent chromosomal diseases leading to the development of primary hypogonadism. The manifestation of these two diseases could cause difficulties in diagnosis and medical treatment that lead to adverse consequences and affect the quality of life.

A 43-years-old patient consulted a physician complaining about the lack of erections for 4 years, breast enlargement. At the age of 3 years based on experienced growth of pubic hair, decreased level of 17-ketosteroids in the urine and genetic analysis diagnosis of CAH, virile form was suspected. Prednisone 5 mg daily was prescribed. At the age of 5, based on phenotypic features and karyotyping Klinefelter Syndrome (XXY) was diagnosed. At the age of 13, stimulating hormonal chorionic gonadotropin drug with only one course of 10 injections was prescribed. At the age of 18, the patient independently canceled the use of prednisone. Further, he did not receive medication therapy for CAH and Klinefelter syndrome. At the age of 42, adrenal CT revealed formation of the left adrenal gland. According to the results of the hormonal activity examination, high levels of aldosterone and renin were detected. A diagnosis of left adrenal aldosteroma was made and a left-sided adrenalectomy was performed. Histological examination diagnosis of aldosteroma did not confirmed. On physical examination, BMI 30 kg/m², genoid type of obesity, right testicle isn`t palpated, left testicle is dense, reduced in size. Small penis size. Decreased level of total testosterone, normal level of SHBG, LH and FSH was revealed. Ultrasound of the scrotum organs revealed decrease in the size of the testicles and appendages, a volumetric formation of the right testicle. Thus, diagnosis of CAH, virile form and Klinefelter syndrome, primary hypogonadism, right-sided cryptorchidism was confirmed. Hydrocortisone 30 mg daily was prescribed. Hormone replacement therapy with testosterone preparations was not prescribed until surgical treatment of neoplasm of the right testicle will be performed. On the example of this clinical case, we have demonstrate a combination of two endocrine pathologies and serious mistakes were made in the management of this patient. The management of such patients requires a multidisciplinary approach, which will avoid mistakes and improve the prognosis and quality of life of these patients.

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