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Van Wyk-Grumbach syndrome with hemangioma in an infant

  • Moumita Biswas , Malay Kumar Sinha , Mrinal Kanti Das und Sumantra Sarkar EMAIL logo
Veröffentlicht/Copyright: 20. Juli 2018

Abstract

Background

Van Wyk-Grumbach syndrome (VWGS) is characterized by juvenile primary hypothyroidism, delayed bone age and isosexual incomplete precocious puberty with reversal to the prepubertal state following thyroid hormone replacement.

Case presentation

In this case, an 18-month-old girl presented with premature menarche since 9 months of age, delayed bone age and enlarged bilateral multicystic ovaries along with a superficial infantile hemangioma over the upper anterior chest. VWGS was diagnosed based on the clinical features. High serum thyroid stimulating hormone and low free thyroxine with the absence of any carpal bones in the wrist X-ray were suggestive of congenital hypothyroidism. Interestingly, the coexisting hemangioma could also play a role in the etiology of the hypothyroidism through “consumptive hypothyroidism”. Thyroid hormone replacement resulted in the complete resolution of signs and symptoms.

Conclusions

Untreated congenital hypothyroidism of short duration, onset of symptoms in infancy and association of an infantile hemangioma in VWGS were the unique features in our case.


Corresponding author: Dr. Sumantra Sarkar, Associate Professor, Department of Pediatric Medicine, Institute of Medical Education and Research, Flat No. B1, Jibantaru Apartment, North Jagtala, P.O. Mahestala, Kolkata-141, West Bengal, India, Phone: +919433090390

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2018-01-29
Accepted: 2018-06-28
Published Online: 2018-07-20
Published in Print: 2018-09-25

©2018 Walter de Gruyter GmbH, Berlin/Boston

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