Endocrine Abstracts

An 18-year-old university student presented with primary amenorrhoea and delayed pubertal development. She reported never having menstruated. Adrenarche occurred between the ages of 12 and 14, with a growth spurt and development of axillary and pubic hair, but breast development remained minimal. On examination, she had Tanner stage 2 breasts and Tanner stage 3 pubic hair, with a wider carrying angle but otherwise normal stature. Investigations showed markedly elevated gonadotrophins (FSH 122 U/l, LH 57.6 U/l) and very low oestradiol (<44 pmol/l), consistent with primary ovarian insufficiency (POI). Prolactin was mildly raised once but normal on repeat testing. MRI pelvis (2023) demonstrated a small uterus (30 × 17 mm) with non-visualisation of the ovaries. Pelvic ultrasound revealed a thin endometrium (2.3 mm) and quiescent ovaries of normal size. Bone age at 17 years corresponded to 14 years. Karyotype confirmed a 46,XX female complement, excluding Turner syndrome, and fragile X testing was negative with no expansion of FMR1 gene. Her autoimmune screen was positive only for gastric parietal cell antibodies. Parathyroid hormone was mildly elevated at 7.4 pmol/l, attributed to vitamin D deficiency. Anti-Müllerian hormone was <0.2 pmol/l. Bone mineral density assessment confirmed reduced bone mass: lumbar spine BMD 0.617 g/cm² (Z-score –4.8), total hip BMD 0.718 g/cm² (Z-score –1.9). These results indicated osteoporosis at the lumbar spine and osteopenia at the hip, concerning for her age. The working diagnosis was primary ovarian insufficiency with hypergonadotropic hypogonadism, most likely idiopathic. Management included vitamin D supplementation (oral spray 3000 IU daily), dietary optimisation for bone health, and initiation of hormone replacement therapy (HRT). She was commenced on transdermal oestradiol (Oestrogel 2.25 mg OD) and cyclical progesterone (Utrogestan 200 mg nocte, days 15–26 monthly) to induce menstruation, maintain bone density, and support secondary sexual development. A transdermal route was chosen over oral to reduce the risk of venous thromboembolism. She was counselled that natural conception is unlikely due to anovulation but that pregnancy with assisted fertility and donor oocytes is possible. Since starting HRT, she has reported monthly withdrawal bleeds, a small increase in breast size, and an improvement in overall well-being.