title: A girl with Hajdu-Cheney syndrome and premature ovarian failure.
abstract: 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.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Nozaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.forename: Mika
authors.initials: M
authors.lastname: Makimura
authors.forename: Tadamune
authors.initials: T
authors.lastname: Kinjo
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D031845:Hajdu-Cheney Syndrome / Q000097:blood / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D016649:Primary Ovarian Insufficiency / Q000209:etiology*
chemical_list: D005640:Follicle Stimulating Hormone