Van Wyk-Grumbach Syndrome: A Rare Consequence of Long Standing Untreated Congenital Hypothyroidism

Mya Sandar Thein¹

Published in Volume 68, No. 2, 2026 April – June issue

https://doi.org/10.64455/xmma0027

Van Wyk-Grumbach syndrome is a rare manifestation of long-standing untreated hypothyroidism in children, characterized by precocious puberty, ovarian cysts, and delayed growth. We report a case of a 9-year-4-month-old girl who presented with precocious menarche, recurrent menorrhagia, and bilateral ovarian cysts, initially managed surgically, and later diagnosed with severe congenital hypothyroidism due to thyroid gland hypoplasia. Prompt initiation of levothyroxine resulted in marked clinical and hormonal improvement. Recognition of growth failure with pubertal signs is crucial for early diagnosis and appropriate management to avoid unnecessary surgery. As far as I know, it’s the first case report of Van Wyk-Grumbach in Myanmar.

A 9-year-4-month-old girl was referred for evaluation of recurrent menorrhagia and bilateral ovarian cysts. She had breast development since 7 years of age, it was progressive. She attained menarche in 2024, when she was 8 years of age with prolonged and frequent menstrual bleeding.

In our case, treatment with levothyroxine alone resulted in marked improvement. The patient showed progressive resolution of symptoms following initiation of thyroid hormone replacement, accompanied by normalization of thyroid function test on follow up. This favorable response supports that appropriate thyroxine therapy alone is sufficient to reverse the clinical manifestation without the need for addition al medical and surgical interventions.

1. Professor/Senior Consultant Paediatrician, Yangon Children’s Hospital, Myanmar

Corresponding author: [email protected]

       https://orcid.org/0009-0008-5157-1571