Levran David, Ben-Shlomo Izhar, Pariente Clara, Dor Jehoshua, Mashiach Shlomo, Weissman Ariel
In Vitro Fertilization Unit, Edith Wolfson Medical Center, Holon 58100, Israel.
J Assist Reprod Genet. 2003 Jan;20(1):21-8. doi: 10.1023/a:1021206704958.
Females with 17alpha-hydroxylase/17,20-desmolase deficiency normally present with amenorrhea, sexual infantilism, hypertension, and hypokalemia. We report on a new clinical presentation of this combined enzymatic defect.
Four Jewish women from two unrelated families presented with primary infertility. All patients exhibited a normal phenotype, blood pressure, and serum potassium levels with abnormally high follicular phase serum progesterone and low E2 levels. In order to characterize the underlying defect, the following steps were undertaken: 1) ovarian suppression by GnRH agonist, 2) adrenal suppression by dexamethasone, 3) ovarian stimulation by gonadotropins, 4) adrenal stimulation by ACTH, 5) hormonal assessment of follicular fluid aspirates, and 6) assessment of in vitro E2 production by luteinized granulosa cells.
The clinical characteristics and endocrine testing results support the diagnosis of a partial deficiency in 17alpha-hydroxylase/17,20-desmolase activities, shared by the adrenal gland and the ovaries
Female infertility can be the first and sole clinical manifestation of this enzymatic defect. Its exact nature and prevalence remain to be determined.
17α-羟化酶/17,20-裂解酶缺乏的女性通常表现为闭经、性幼稚、高血压和低钾血症。我们报告了这种联合酶缺陷的一种新的临床表现。
来自两个无亲缘关系家庭的四名犹太女性表现为原发性不孕。所有患者均表现出正常的表型、血压和血清钾水平，卵泡期血清孕酮异常升高而雌二醇水平降低。为了明确潜在缺陷，采取了以下步骤：1）用促性腺激素释放激素激动剂抑制卵巢；2）用地塞米松抑制肾上腺；3）用促性腺激素刺激卵巢；4）用促肾上腺皮质激素刺激肾上腺；5）对卵泡液抽吸物进行激素评估；6）评估黄体化颗粒细胞的体外雌二醇生成。
临床特征和内分泌检测结果支持肾上腺和卵巢均存在17α-羟化酶/17,20-裂解酶活性部分缺乏的诊断。
女性不孕可能是这种酶缺陷的首发及唯一临床表现。其确切性质和患病率仍有待确定。
