Severe, prolonged primary hypothyroidism causing ovarian hyperstimulation: an adult presentation (Van Wyk–Grumbach syndrome)

The rare endocrine condition known as Van Wyk-Grumbach syndrome (VWGS) is typified by delayed bone age, multicystic ovaries, isosexual precocious puberty and increased, untreated primary hypothyroidism. It typically presents in paediatric patients but can occasionally be missed until adulthood. We report an unusual adult presentation of VWGS in a short-statured woman in her early 20s who presented with menorrhagia-induced severe anaemia, hypothyroid features and multicystic ovaries. Laboratory evaluation revealed markedly elevated thyroid-stimulating hormones, hyperprolactinaemia, elevated oestradiol and low luteinising hormones. Imaging showed a hypoplastic thyroid and enlarged multicystic ovaries. The initiation of levothyroxine therapy resulted in normalisation of thyroid function and the eventual resolution of ovarian cysts. She later conceived successfully. This case highlights how crucial it is to identify VWGS early to avoid difficulties and enhance results. Timely thyroid hormone replacement can reverse hormonal disturbances, restore fertility and prevent unnecessary surgical interventions. This case report describes a unique presentation of VWGS in a short-statured woman in her early 20s with severe anaemia due to menorrhagia, associated with severe hypothyroidism.