Van Wyk-Grumbach syndrome: A rare cause of precocious puberty.

Presse Med

Medicine school of Sfax, Department of pediatrics, Hedi chaker Hospital, Sfax, Tunisia.

Published: May 2018

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http://dx.doi.org/10.1016/j.lpm.2018.02.012DOI Listing

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Peripheral precocious puberty secondary to severe hypothyroidism.

Arch Argent Pediatr

November 2024

Endocrinology Research Center Dr. César Bergadá, National Scientific Research Council and Techniques - FEI, Endocrinology Division; Hospital de General de Niños Ricardo Gutiérrez, City of Buenos Aires, Argentina.

Van Wyk-Grumbach syndrome is a rare form of severe hypothyroidism. We present a 10.9-year-old girl who consulted for genital bleeding, Tanner stage 2, and clinical manifestations of hypothyroidism.

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Van Wyk-Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a 10-year-old girl with Down's syndrome, short stature, and vitiligo who presented to our hospital with vaginal bleeding and a palpable pelvic mass. Upon ultrasound and topographical examination, bilateral ovarian masses with negative tumor markers were detected.

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Article Synopsis
  • Chronic hypothyroidism in children can lead to growth issues, delayed skeletal maturity, and delayed puberty, as seen in the Van Wyk-Grumbach syndrome (VWGS), first reported in 1960.* -
  • VWGS presents with symptoms like early breast development, galactorrhea, delayed bone age, and pituitary enlargement, and many cases share similar clinical and biochemical features, such as elevated TSH and low thyroxine levels.* -
  • Treatment with thyroid hormone replacement has been effective in reversing the symptoms of VWGS, resulting in normal growth and thyroid function within six months for the patients studied.*
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The Van Wyk-Grumbach syndrome (VWGS) (hypothyroidism, ovarian mass, and precocious puberty) has been extensively documented in the literature as long-term hypothyroidism manifesting as an ovarian mass. The authors of this study describe this entity in a young girl, aged 10, who presented with abdominal pain with a multiloculated ovarian cyst. She was evaluated, and it was discovered that she had delayed bone age, precocious puberty, and a small height.

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