A girl with Hajdu-Cheney syndrome and premature ovarian failure.
Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
SourceJournal of pediatric endocrinology & metabolism : JPEM 25:1-2 2012 pg 171-3
Follicle Stimulating Hormone
Primary Ovarian Insufficiency
Pub Type(s)Case Reports
Research Support, Non-U.S. Gov't