Van Wyk and Grumbach syndrome

The Van Wyk and Grumbach syndrome is defined by a combination of hypothyroidism, precocious puberty (usually with delayed bone age) and ovarian cysts in pre- and post-pubertal girls.

Mechanism and symptoms

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.

Further symptoms are ascites, pleural and pericardial effusions, elevated ovarian tumour markers, enlarged pituitary gland and elevated prolactin and alpha-fetoprotein levels.

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.[1][2][3]

References

  1. ↑ 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. PMID 18283448. doi:10.1007/s00247-008-0777-1.
  2. ↑ 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 : JPEM. 25 (7–8): 761–7. PMID 23155707. doi:10.1515/jpem-2012-0112.
  3. ↑ 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. PMID 19127572. doi:10.1002/pbc.21920.
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