Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

The nature of a non-mosaic marker Y chromosome observed in a pseudohermaphrodite patient with Leydig cell agenesis was investigated by high-resolution chromosome analysis and molecular probes from the Y chromosome. Cytogenetically, the marker chromosome appeared to be an isodicentric, with breakage in Yq11.21. Double copies of all Yp-specific loci tested, including SRY, were present. The most distal Yq portion detected in patient DNA was DXS278-C, which maps to interval D in the chromosome Yq deletion map. Fragment DXS278-B, which maps to deletion interval E, was absent. The possible relationship between this cytogenetic abnormality and Leydig cell agenesis, a finding never reported in association with Y chromosome rearrangements, is discussed.     

Prader 5型女性假两性畸形矫治术18例分析

目的探讨Prader5型女性假两性畸形的畸形特征与矫治方法。方法对1994年5月至2004年8月阜阳市人民医院收治的18例Prader5型女性假两性畸形患者进行研究,在观察畸形特征的基础上,设计并实施矫治手术,进而对手术效果进行前瞻性研究。结果Prader5型女性假两性畸形有4大畸形特征;针对畸形特征,对18例患者实施了手术矫治,效果满意;首次提出对女性假两性畸形的手术分度诊断。结论根据畸形特征设计的Prader5型女性假两性畸形矫治手术新颖、科学、操作简单、对患者损伤小,效果好,值得推广;手术分度诊断对女性假两性畸形的畸形程度和手术难易的判断及术后康复指导有一定意义。     

New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency

Male pseudohermaphroditism caused by steroid 5α-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5α-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male genitalia. This report describes the molecular analysis of the 5α-reductase type 2 gene in a Brazilian patient who was raised as a female, underwent a reversal of gender role behavior, and is now a married man. This patient is a compound heterozygote bearing an A→G mutation within exon 2, changing codon 126 from Glu to Arg on one allele and a novel single base deletion (418delT) causing a frameshift mutation at codon 140 in the same exon, on the other allele. This last mutation probably leads to the synthesis of a truncated protein, because a premature termination signal is created at codon 159. Am. J. Med. Genet. 87:221–225, 1999. © 1999 Wiley-Liss, Inc.     

Homozygous mutation (A228T) in the 5α-reductase type 2 gene in a boy with 5α-reductase deficiency: Genotype–phenotype correlations

The molecular basis of a patient with 5α-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 13 years when the virilization process began. Hypospadias repair was performed and he changed to a male gender. DNA sequence analysis disclosed a homozygous mutation in exon 4 of the 5α-reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin. Am. J. Med. Genet. 80:269–272, 1998. © 1998 Wiley-Liss, Inc.     

女性假两性畸形的CT表现及其临床价值

目的评价女性假两性畸形的CT表现特点及其临床价值。方法回顾性分析4例经手术及临床诊断为女性假两性畸形的CT表现。结果4例患者均未经激素治疗，双侧肾上腺内外肢弥漫性增粗、迂睦、延长，1例表现为结节状、串珠状增生，均轮廓清晰，密度均匀，增强扫描呈明显、均匀、同步强化。结论女性假两性畸形是遗传性疾病，早期诊断和早期治疗极其重要。肾上腺弥漫性、串珠状增生有一定的特征性，但必须结合临床表现和实验室检查，综合分析，才能做出正确诊断。     

女性假两性畸形患者的心理分析及干预

目的:探讨心理干预措施在女性假两性畸形患者手术治疗中的作用.方法:通过对12例女性假两性畸形患者采取恰当的术前、术后心理分析及相应的干预措施,让患者达到了身心合一的治疗目的.结果:本组所有患者获得了满意的整形手术效果,同时能够身心愉悦的融入社会生活.结论:全面分析女性假两性畸形患者的心理状况,并采取有针对性的心理干预措施,才能在保证手术效果的同时帮助他们重新融入社会.     

Prospect of the Monitoring System for Congenital Disorders in Japan

The study of the monitoring system for congenital disorders in Japan is still in its early stage. In reviewing the short history of the study, we can notice some serious problems, i.e. the lack of clear definition, inadequate selection, and unreasonable classification of congenital disorders to be monitored. With this in mind, an extensive program of the monitoring system for congenital disorders was organized in 1979 by the Ministry of Health and Welfare. It is in accord with a global view to establish a new monitoring system, getting an accurate picture of congenital disorders of the Japanese people and having a quick response to the new flows, and setting up a monitoring center.