ESPE Abstracts (2021) 94 P2-337

ESPE2021 ePoster Category 2 Multisystem endocrine disorders (13 abstracts)

Van Wyk Grumbach Syndrome in an Egyptian Female Pediatric Patient: a rare presentation of a common disease

Amany Ibrahim 1 & Alshaimaa Mahfouz Abdel Rahman 2

1Diabetes, Endocrine, Metabolism, Pediatric Unit (DEMPU), Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt; 2Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Minia University, Minia, Egypt

Background: Van Wyc-Grumbach syndrome is a rare presentation of long standing pre-pubertal hypothyroidism characterized by bilateral multicystic ovaries, vaginal bleeding and delayed skeletal growth in case of female.

Case Presentation: we present a clinical course, diagnosis and management of a case of Van Wyc-Grumbach syndrome in a 10-years old Egyptian counselled for recurrent vaginal bleeding and pubertal advancement for age. She was noted to have Tanner 4 breasts with no pubic hairs. Laboratory investigation revealed very high levels of thyroid stimulating hormone along with very low free thyroxine, suggesting long-standing untreated hypothyroidism. A pelvic ultrasound was done, which showed multiple simple cysts in both ovaries. Bone age was delayed. The diagnosis of Van Wyk-Grumbach syndrome was made based on the clinical and laboratory criteria. L-thyroxine therapy was initiated and successfully reversed the symptoms in 2 months duration.

Conclusion: This case shows the importance of early identification of the presence of precocious puberty, delayed bone age and ovarian cyst as a manifestation of hypothyroidism to prevent serious complications like Van Wyk-Grumbach syndrome. Precocious puberty associated with delayed bone age should attract attention to the diagnosis of this unique condition. The rapid initiation of thyroid hormone replacement therapy can totally reverse this condition; stopping the rapid progression of precocious puberty, ovarian cystic enlargement allowing for adequate final adult height achievement.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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