Endocrine Abstracts

A diagnosis of primary amenorrhea (PA) is always a clinical challenge. By definition, PA is a failure to reach menarche by age 14 with the absence of secondary sexual characteristics or absence of menses by age 16 years regardless of the development of secondary sexual characteristics. It may result from a number of different conditions and requires comprehensive evaluation to identify a cause, along with a regular patient follow-up. The aim of this case report is to emphasize the significance of early diagnosis accompanied with timely treatment in patients with hypogonadotropic hypogonadism (HH). A 21-year-old female was referred to endocrinologist due to PA and possible uterine agenesis. She was born prematurely at 36 week and soon diagnosed with strabismus and congenital cataract. Previously, her mother had two miscarriages. At physical examination, her weight was 70 kg, height 167 cm (BMI 25.1 kg/m²), hair growth reduced, breasts Tanner stage I, pubic hair Tanner stage II and high-arched palate was present. Basal hormonal evaluation revealed low estrogen (E2 126 pm/l), low levels of gonadotropins (LH 0.00 mIU/l, FSH 0.07 IU/l) and total testosteron of 1.76 nmol/l. Levels of IGF-1, IGF BP3, thyroid hormones, prolactin, basal cortisol and androstenedione were all in reference range. Glucose tolerance was not impaired. Magnetic resonance imaging (MRI) showed normal anatomy and appearance of hypothalamic-pituitary region. Pelvic MRI revealed a hypoplastic uterus with uncertain ovarian demarcation (right ovary 16×8 mm, properly located). LHRH and Pregnyl tests were performed and, according to all data, a diagnosis of HH was established. Additional analysis included cytogenetics: 46XX with pericentric inversion of chromosome 9 (inv[9][p11q13]). The patient also underwent psychological assessment. A treatment with estrogens was initiated, followed by combined, estrogen-progesterone replacement. As a result, patient is now with regular menstrual cycles and further development of secondary sexual characteristics. In conclusion, the precise and early diagnosis of HH along with appropriate replacement therapy can restore fertility in affected patients, preserve normal bone mineral density and prevent negative physical and psychological sequelae.