Endocrine Abstracts

Swyer syndrome (46XY karyotype) is a rare disorder of sexual development. Patients phenotypically appear female with normal external genitalia and vagina. 14 year old girl is evaluated for primary amenorrhea. She is 176 cm and weighs 61 kg (BMI=19.7 kg/m²) – she has had significant growth for the past year. The girl has a vagina with 7 cm in length, there is no terminal hair or breast development (Tanner I). MRI of pelvis shows uterine hypoplasia, ovary agenesia. DXA scan reveals Z scores of -3.4. On biochemical serum assessment TSH is 1.1 IU/ml (0.48-4.17 IU/ml); estradiol<11.80 pg/ml (15.6-212.2 pg/ml); LH 38.8 U/l (0.8-29.9 U/l); FSH 73.3 U/l (1.1-9.4 U/l); 17 - OH progesterone 0.35 ng/ml (0.02-0.72 ng/ml); androstendione 0.37 ng/ml (0.3-3.3 ng/ml); prolactin 230 mU/l (84.8-439.3 mU/l); testosterone 0.04 ng/ml (<0.025-0.268 ng/ml); DHEA-SO4 159 μg/dL (25.2-213.9 μg/dL). The rest of examination findings are unremarkable. Cytogenetic testing shows karyotype XY, which confirms Swyer syndrome. Finding out the diagnosis, girl develops depression, she has suicidal thoughts because she thinks she will not develop fully as a woman. Patient underwent prophylactic bilateral gonadectomy. Patient is started on transdermal estrodiol 25 μg twice weekly, Colecalciferol 25 000 IU/weekly. 1.5 years later on biochemical serum assessment estrodiol is 43.7 pg/ml (21.9-297.2 pg/ml); FSH 72.6 (1.7-18.5 U/l). Breast and terminal hair development has begun (Tanner III). She is feeling better, does not want to commit suicide. Now patient asks for second opinion. Progesteone therapy is suggested to induce cycling.

Conclusions: It is reasonable to look for causes of primary amenorrhea, if no secondary sexual characteristics such as breast development have occured by age 13. Optimal hormone replacing therapy is the cornerstone to improve well-being and to prevent complications of hypoestrogenemia (e.g. osteoporosis) in adolescents diagnosed with primary amenorrhea.