Endocrine Abstracts

Introduction: Turner syndrome (TS) is a chromosomal disorder that arises due to the complete or partial loss of one sex chromosome, impacting approximately 1 in every 2500 to 3000 female births. The phenotype is attributed to haploinsufficiency of genes on the X chromosome, which are resistant to inactivation. Virilizing symptoms appearing in a patient with TS advocates for an endocrine assessment and karyotyping to ascertain the virilization’s etiology, enabling prompt intervention and prevention of further manifestations.

Case report: We present the case of a 22-year-old patient, diagnosed with Turner syndrome at the age of 1 (partial monosomoy of the short arm of the X chromosome, caused by the deletion of a Xp fragment, which included the whole SHOX gene) with short stature, cardiac malformations (operated VSD at 8-years-old) and renal abnormalities (left renal hypoplasia, neurogenic bladder, recurrent urinary tract infections). She was lost to follow-up from the age of 13 until 20 years old, when she returned for hirsutism and hyperandrogenism. The patient exhibited significant hirsutism (Ferriman score 17), mild acne, and shortened fourth metacarpal. Menarche occurred at 14 years of age with regular menstrual cycles of 30-40 days. Additionally, an abnormal upper-to-lower body segment ratio and macrocephaly were noted. Hormonal evaluation showed elevated baseline testosterone at 1.88 nmol/l, with a repeated measurement of 1.65 nmol/l, DHEAS of 534.9 µg/dl, and 17OHP at 1.28 ng/ml. The patient had a normal HOMA index of 1.4, euthyroid status, and negative ATPO antibodies. Dexamethasone suppression resulted in an 87% decrease in testosterone and an 80% reduction in DHEAS, ruling out a tumor. Synacthen test revealed 17OHP of 2.15 ng/ml and cortisol of 24.1 µg/dl at 60 minutes, excluding congenital adrenal hyperplasia as a hyperandrogenism source. The CT scan revealed no expansive pelvic masses, excluding the presence of gonadoblastoma. MLPA technique revealed no Y chromosome fragment, but conducting FISH test is mandatory for confirmation - ongoing.

Discussions: In Turner syndrome patients with hyperandrogenism, comprehensive investigations, including genetic testing, are vital to exclude malignancies like gonadoblastoma. The presence of Y chromosome material necessitates a multidisciplinary approach involving endocrinology, genetics, and oncology for optimal management and long-term patient care.

Keywords: Turner Syndrome, hyperandrogenism, SHOX gene