| Van Wyk and Grumbach syndrome | |
|---|---|
| Other names | Van Wyk-Grumbach syndrome (VWGS) |
| Specialty | Endocrine |
Van Wyk and Grumbach syndrome is a medical condition defined by a combination of hypothyroidism, precocious puberty (with delayed bone age and lack of pubic hair), and ovarian cysts in pre- and post-pubertal girls or macroorchidism (unusually large testes) in boys.[1]
Presentation[edit]
Symptoms are ascites, pleural and pericardial effusions, elevated ovarian tumour markers, enlarged pituitary gland and elevated prolactin and alpha-fetoprotein levels.[citation needed]
Mechanism[edit]
The presumed pathogenesis is that primary hypothyroidism causes enlargement and hyperstimulation of the pituitary gland which in turn cause ovarian hyperstimulation, ovarian cysts and precocious puberty.[citation needed]
Diagnosis[edit]
Diagnosis is made by imaging/sonography and thyroid hormone tests.[citation needed]
Treatment[edit]
The syndrome usually responds well to thyroid hormone replacement with complete resolution of symptoms.[1]
History[edit]
The syndrome was described in 1960 by Van Wyk and Melvin M. Grumbach.[2][3][4]
References[edit]
- ^ a b Rastogi, Ashu; Bhadada, Sanjay Kumar; Bhansali, Anil (July 2011). "An unusual presentation of a usual disorder: Van Wyk-Grumbach syndrome". Indian Journal of Endocrinology and Metabolism. 15 (Suppl 2): S141–143. doi:10.4103/2230-8210.83356. ISSN 2230-9500. PMC 3169870. PMID 21966653.
- ^ Browne, L. P.; Boswell, H. B.; Crotty, E. J.; O'Hara, S. M.; Birkemeier, K. L.; Guillerman, R. P. (2008). "Van Wyk and Grumbach syndrome revisited: Imaging and clinical findings in pre- and postpubertal girls". Pediatric Radiology. 38 (5): 538–42. doi:10.1007/s00247-008-0777-1. PMID 18283448. S2CID 10001906.
- ^ Patni, N; Cervantes, L. F.; Diaz, A (2012). "Elevated alpha-fetoprotein levels in Van Wyk-Grumbach syndrome: A case report and review of literature". Journal of Pediatric Endocrinology & Metabolism. 25 (7–8): 761–7. doi:10.1515/jpem-2012-0112. PMID 23155707. S2CID 70369330.
- ^ Hunold, A; Alzen, G; Wudy, S. A.; Bluetters-Sawatzki, R; Landmann, E; Reiter, A; Wagner, H. J. (2009). "Ovarian tumor in a 12-year-old female with severe hypothyroidism: A case of Van Wyk and Grumbach syndrome". Pediatric Blood & Cancer. 52 (5): 677–9. doi:10.1002/pbc.21920. PMID 19127572. S2CID 21495694.
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