17α-hydroxlyase/17, 20-lyase Deficiency in Three Siblings with Primary Amenorrhea and Absence of Secondary Sexual Development
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology,General Medicine,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Current evaluation of amenorrhea;Fertil Steril,2008
2. Genetics of congenital adrenal hyperplasia;Krone;Best Pract Res Clin Endocrinol Metab,2009
3. 17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis–a case report;Benetti-Pinto;Gynecol Endocrinol,2007
4. Genotyping of a Chinese family with 46, XX and 46, XY 17-hydroxylase deficiency;Tian;Gynecol Endocrinol,2009
5. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency;Qiao;Clin Endocrinol (Oxf),2010
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1. Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report;Gynecological Endocrinology;2023-09-08
2. Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism;Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-09-07
3. An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report;BMC Endocrine Disorders;2022-12-02
4. Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report;World Journal of Clinical Cases;2022-04-16
5. A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes;Women's Health;2022-01
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