title: Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family.
abstract: Familial aggregates of Müllerian fusion anomalies (MFAs) and of Müllerian aplasia (MA) are rare. I report the case of a girl with MA and 'streak-like' ovaries, whose mother had a MFA. No similar mother-daughter pair appears to have been reported previously. The girl, mother, and maternal grandmother each have low galactose-1-phosphate uridyl transferase activities and are each heterozygous for the 'classic' galactosaemia allele. These findings support previous suggestions that MA may sometimes be related to abnormal galactose metabolism, and further suggest that, in some cases, MFAs may also be related to disordered galactose metabolism.
authors.affiliation: Department of Pediatrics, William Beaumont Hospital, Royal Oak, MI 48073.
authors.forename: D J
authors.initials: DJ
authors.lastname: Aughton
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009095:Mullerian Ducts / Q000002:abnormalities*; D010053:Ovary / Q000002:abnormalities; D013577:Syndrome; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood
chemical_list: D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase