Van Wyk and Grumbach syndrome revisited: imaging and clinical findings in pre- and postpubertal girls.
BACKGROUND
In 1960 Van Wyk and Grumbach described a syndrome of juvenile hypothyroidism, precocious puberty and ovarian enlargement. These findings undergo complete regression with thyroid hormone replacement therapy. This diagnosis can be made on the basis of imaging findings and thyroid function analysis, avoiding surgery.


OBJECTIVE
To relate the distinctive clinical and imaging features and putative pathophysiological mechanism of a series of patients with Van Wyk and Grumbach syndrome (VWGS).


METHODS
Patients with VWGS diagnosed at two large children's hospitals over a 6-year period beginning in 1999 were retrospectively reviewed. A literature review was also conducted.


RESULTS
Five female patients were diagnosed with cystic ovarian enlargement and hypothyroidism at ages ranging from 9 to 17 years. Isosexual precocious puberty was found in prepubescent patients. Associated findings included delayed bone age, ascites, and pleural and pericardial effusions. Ovarian cyst involution occurred following treatment of the hypothyroidism.


CONCLUSIONS
The association of primary hypothyroidism with cystic ovarian enlargement and precocious puberty is important to recognize. In the absence of suspected ovarian torsion, surgery is unnecessary, as cyst regression occurs after appropriate thyroid hormone replacement. Noncompliance with hormone replacement therapy should be considered when cystic ovarian enlargement is noted in patients with a history of hypothyroidism.
Browne
Lorna P
LP
Department of Diagnostic Imaging, Texas Children's Hospital, 6621 Fannin St., Houston, TX 77030, USA. lxbrowne@texaschildrenshospital.org
Boswell
Hillary B
HB
Crotty
Eric J
EJ
O'Hara
Sara M
SM
Birkemeier
Krista L
KL
Guillerman
R Paul
RP
D000291:Adnexal Diseases / Q000175:diagnosis; D000293:Adolescent; D000365:Age Determination by Skeleton / Q000379:methods; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000188:drug therapy; D010048:Ovarian Cysts / Q000175:diagnosis; D010053:Ovary / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010388:Pelvis / Q000000981:diagnostic imaging; D010490:Pericardial Effusion / Q000175:diagnosis; D010996:Pleural Effusion / Q000175:diagnosis; D011627:Puberty; D011629:Puberty, Precocious / Q000175:diagnosis*; D013902:Radiography, Thoracic / Q000379:methods; D012189:Retrospective Studies; D013577:Syndrome; D013961:Thyroid Gland / Q000503:physiopathology; D013963:Thyroid Hormones / Q000008:administration & dosage; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D013963:Thyroid Hormones