Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype

被引:1
|
作者
Yauch, Lauren [1 ]
Mayhew, Allison [2 ,3 ]
Gomez-Lobo, Veronica [2 ,3 ]
Shimy, Kim [4 ]
Sarafoglou, Kyriakie [1 ,5 ]
机构
[1] Univ Minnesota, Dept Pediat, Div Endocrinol, Med Sch, Minneapolis, MN 55454 USA
[2] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Pediat & Adolescent Gynecol, Bethesda, MD USA
[3] Childrens Natl Med Ctr, Div Pediat & Adolescent Gynecol, Washington, DC 20010 USA
[4] Childrens Natl Med Ctr, Div Endocrinol, Washington, DC 20010 USA
[5] Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, Minneapolis, MN 55455 USA
关键词
congenital adrenal hyperplasia; newborn screening; genitalia; virilization; genotype/phenotype;
D O I
10.1210/jendso/bvaa169
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:6
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