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Cureus · 2026

Van Wyk-Grumbach Syndrome: A Rare Triad of Precocious Puberty, Pituitary Pseudomacroadenoma, and Multicystic Ovaries in an Eight-Year-Old Girl.

Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Bhosale Prashant, G Rubanbalaji, Maurya Yogendra N, Meena Anita, Kaur Ripdaman

Аннотация

Van Wyk-Grumbach syndrome (VWGS) is a rare manifestation of chronic, severe primary hypothyroidism in children. It is classically characterized by delayed bone age, short stature, and isosexual precocious puberty, often accompanied by multicystic ovaries and pituitary hyperplasia. Because of its presentation, it is frequently misdiagnosed as an ovarian or pituitary neoplasm, leading to unnecessary surgical interventions. We report the case of an eight-year-old female child who presented with a three-day history of per vaginal bleeding. Physical examination revealed severe disproportionate short stature. Imaging initially suggested neoplastic etiologies, revealing bilateral complex cystic ovarian lesions on abdominal magnetic resonance imaging (MRI) and a sellar/suprasellar mass on brain MRI suggestive of a pituitary macroadenoma. However, a severely delayed bone age (3.5-4 years) and a thyroid profile confirming autoimmune primary hypothyroidism led to the diagnosis of VWGS. The patient was managed purely medically with cautious levothyroxine replacement therapy. This case highlights the critical importance of recognizing VWGS to avoid devastating and unnecessary ovarian or pituitary surgeries.