Two consecutive successful live birth in woman with 17 hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation

被引：16

作者：

Kitajima, Michio ^{[1
]}

Miura, Kiyonori ^{[1
]}

Inoue, Tsuneo ^{[1
]}

Murakami, Yuko ^{[1
]}

Kitajima, Yuriko ^{[1
]}

Murakami, Naoko ^{[1
]}

Taniguchi, Ken ^{[1
]}

Yoshiura, Ko-Ichiro ^{[2
]}

Masuzaki, Hideaki ^{[1
]}

机构：

[1] Nagasaki Univ, Dept Obstet & Gynecol, Grad Sch Biomed Sci, 1-7-1 Sakamoto, Nagasaki, Japan

[2] Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki, Japan

来源：

GYNECOLOGICAL ENDOCRINOLOGY | 2018年 / 34卷 / 05期

关键词：

17-hydroxylase deficiency; infertility; hormone replacement therapy; frozen-thaw embryo transfer; pregnancy; 17-HYDROXYLASE/17,20-LYASE DEFICIENCY; 17,20-LYASE DEFICIENCY;

D O I：

10.1080/09513590.2017.1393512

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

17-Hydroxylase deficiency is rare autosomal recessive disorder that manifested by hypertension, hypokalemia, delayed sexual development, primary amenorrhea and infertility. The information regarding infertility care and conception in women with this disorder are extremely limited. We report a 24-year-old Japanese woman with primary amenorrhea who was diagnosed as partial 17-hydroxylase deficiency caused by homozygous 3bp deletion in exon 1 of 17-hydroxylase gene. In vitro fertilization with controlled ovarian stimulation was carried out and all viable embryo were frozen. During ovarian stimulation, serum progesterone levels were markedly elevated, and endometrial growth was impaired. Utilizing frozen-thaw embryo transfer under hormonal replacement (glucocorticoid, estradiol and progesterone), she had successfully given two consecutive live birth. Women with 17-hydroxylase deficiency with residual ovarian reserve can afford reproductive success by appropriate diagnosis and treatment by assisted reproductive technology.

引用

页码：381 / 384

页数：4

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