Aughton D J
Department of Pediatrics, William Beaumont Hospital, Royal Oak, MI 48073.
Clin Dysmorphol. 1993 Jan;2(1):55-61.
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.
苗勒氏管融合异常（MFA）和苗勒氏管发育不全（MA）的家族聚集现象很罕见。我报告了一例患有MA和“条索状”卵巢的女孩病例，其母亲患有MFA。此前似乎没有类似的母女病例报道。该女孩、其母亲和外祖母的1-磷酸半乳糖尿苷转移酶活性均较低，且均为“经典型”半乳糖血症等位基因的杂合子。这些发现支持了之前的观点，即MA有时可能与半乳糖代谢异常有关，并且进一步表明，在某些情况下，MFA也可能与半乳糖代谢紊乱有关。
