45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case.
A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.
Wu
F F
FF
Department of Pediatrics, Taipei Municipal Women's and Children's Hospital, Taiwan, R.O.C.
Wang
T R
TR
Chen
C F
CF
Lin
M H
MH
Hung
C S
CS
Kau
H P
HP
Yang
K H
KH
D000015:Abnormalities, Multiple; D006061:Gonadal Dysgenesis, 46,XY / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology