睾丸决定因素
Y染色体
性腺
核型
性别分化
荧光原位杂交
医学
染色体
性发育障碍
X染色体
硫氧化物9
男性不育
内分泌学
第二性征
不育
内科学
妇科
生理学
男科
遗传学
生物
基因
怀孕
基因表达
激素
作者
Ahmet Anık,Gönül Çatlı,Ayhan Abacı,Ece Böber
摘要
The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.
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