Van Wyk and Grumbach syndrome is a medical condition defined by a combination of
hypothyroidism
Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as po ...
,
precocious puberty (usually with delayed bone age) and
ovarian cysts in pre- and post-pubertal girls.
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
Melvin Malcolm Grumbach (December 21, 1925 – October 4, 2016) was an American pediatrician and academic who specialized in pediatric endocrinology. Called Edward B. Shaw Distinguished Professor of Pediatrics, Emeritus at the University of Calif ...
.
References
Thyroid disease
Noninflammatory disorders of female genital tract
Syndromes
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