Van Wyk and Grumbach syndrome | |
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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.
Presentation
Symptoms are ascites, pleural and pericardial effusions, elevated ovarian tumour markers, enlarged pituitary gland and elevated prolactin and alpha-fetoprotein levels.
Mechanism
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.
Diagnosis
Diagnosis is made by imaging/sonography and thyroid hormone tests.
Treatment
The syndrome usually responds well to thyroid hormone replacement with complete resolution of symptoms.
History
The syndrome was described in 1960 by Van Wyk and Melvin M. Grumbach.
References
- ^ 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.
Thyroid disease | |||
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Hypothyroidism |
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Hyperthyroidism |
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Thyroiditis | |||
Enlargement |