Introduction: Van-Wyk Grumbach syndrome (VWGS) described in 1960 associate Primary hypothyroidism to early puberty, polycystic ovaries and pituitary adenoma with or without hyperprolactinemia. It is a very rare cause of precocious puberty, which the etiopathogenis is not yet very clear.
Observation: We report the case of an 8 year old girl known for trisomy 21, she presented a Primary hypothyroidism treated initially with Levothyroxine at low dose and developed 6 months later an early puberty with vaginal bleeding and polycystic ovaries suggesting the diagnosis of VWGS. Her MRI showed a pituitary macroadenoma that resolved completely after only 90 days of adequate dose of levothyroxine with clinical and emotional improvement.
Conclusion: The Van-Wyk Grumbach syndrome is very rare, but remains an important entity to know because of its good prognosis under medical treatment that avoids the use of unnecessary surgeries (polycystic ovaries) and risky (pituitary macroadenoma) .
19 - 21 Sep 2019
European Society for Paediatric Endocrinology