Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
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DOI：
10.1210/jendso/bvaa169
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发表时间：
2021-01-01
影响因子：
4.1
通讯作者：
Sarafoglou K
中科院分区：
文献类型：
--
作者：
Yauch L;Mayhew A;Gomez-Lobo V;Shimy K;Sarafoglou K
由 21-羟化酶缺乏引起的先天性肾上腺增生 (CAH) 是一种原发性肾上腺功能不全，其特征是皮质醇分泌受损和雄激素产生升高，是女性新生儿非典型生殖器的主要原因。患有典型 CAH 的女性，无论是盐消耗型还是单纯男性化型，通常在出生时就出现非典型生殖器，从阴蒂肿大到男性外观生殖器，这是由于子宫内雄激素（雄烯二酮和睾酮）升高所致。患有轻度非典型 CAH 的女性通常具有典型的生殖器。为了证明始终对规则的例外情况保持开放态度的重要性，我们报告了 3 名女性新生儿，她们的生殖器非男性化、盐耗性 CAH 表型和基因型与单纯男性化 CAH 最一致。只有通过阳性新生儿筛查来识别患有 CAH 的女性，她们才能在出现肾上腺和/或盐消耗危机之前被诊断出来。
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a form of primary adrenal insufficiency characterized by impaired cortisol secretion and elevated androgen production, is the leading cause of atypical genitalia in the female newborn. Females with classic CAH, either salt-wasting or simple-virilizing form, usually present at birth with atypical genitalia ranging from clitoromegaly to male-appearing genitalia, due to in utero to elevated androgens (androstenedione and testosterone). Females with mild nonclassic CAH usually present with typical genitalia. Proving the importance of always keeping an open mind for exceptions to the rule, we report on 3 female newborns who presented with the nonvirilized genitalia, salt-wasting CAH phenotype and genotype most consistent with simple-virilizing CAH. It is only through a positive newborn screen identifying the females with CAH that they were diagnosed before developing adrenal and/or salt-wasting crisis.
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影响因子：
5.8
作者：
Baumgartner-Parzer, SM;Schulze, E;Vierhapper, H
通讯作者：
Vierhapper, H
DOI：
10.1186/s13633-019-0069-6
发表时间：
2019-12-05
期刊：
INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
影响因子：
--
作者：
Adekoya, Adesola Olubunmi;Fetuga, Musili Bolanle;Adekoya, Abiola Omobonike
通讯作者：
Adekoya, Abiola Omobonike
影响因子：
5.8
作者：
Giwercman, YL;Nordenskjöld, A;Wedell, A
通讯作者：
Wedell, A
影响因子：
5.8
作者：
Krone, N;Braun, A;Schwarz, HP
通讯作者：
Schwarz, HP
影响因子：
15.9
作者：
Goto, M;Hanley, KP;Hanley, NA
通讯作者：
Hanley, NA