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Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Mol Cell Endocrinol. 2009 Mar 05; 300(1-2):192-6.MC

Abstract

Congenital adrenal hyperplasia (CAH) applies to a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of CAH is 21-hydroxylase deficiency (21-OHD), which in its severe form can cause genital ambiguity in females. Affected females experience virilization both physically and psychologically. Steroid 21-OHD can be diagnosed in utero through molecular genetic analysis of fetal DNA. Appropriate prenatal treatment by dexamethasone administration to the at-risk pregnant mother is effective in reducing genital virilization in the fetus, thus avoiding unnecessary genitoplasty in affected females. Current data from large human studies show that prenatal diagnosis and treatment are safe in the short term for both the fetus and the mother. Preliminary data from long-term studies support these results.

Authors+Show Affiliations

Department of Pediatrics, Mount Sinai School of Medicine, USA.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19101608

Citation

Nimkarn, Saroj, and Maria I. New. "Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency." Molecular and Cellular Endocrinology, vol. 300, no. 1-2, 2009, pp. 192-6.
Nimkarn S, New MI. Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol Cell Endocrinol. 2009;300(1-2):192-6.
Nimkarn, S., & New, M. I. (2009). Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Molecular and Cellular Endocrinology, 300(1-2), 192-6. https://doi.org/10.1016/j.mce.2008.11.027
Nimkarn S, New MI. Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency. Mol Cell Endocrinol. 2009 Mar 5;300(1-2):192-6. PubMed PMID: 19101608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. AU - Nimkarn,Saroj, AU - New,Maria I, Y1 - 2008/12/03/ PY - 2008/10/06/received PY - 2008/11/26/revised PY - 2008/11/26/accepted PY - 2008/12/23/entrez PY - 2008/12/23/pubmed PY - 2009/5/5/medline SP - 192 EP - 6 JF - Molecular and cellular endocrinology JO - Mol Cell Endocrinol VL - 300 IS - 1-2 N2 - Congenital adrenal hyperplasia (CAH) applies to a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of CAH is 21-hydroxylase deficiency (21-OHD), which in its severe form can cause genital ambiguity in females. Affected females experience virilization both physically and psychologically. Steroid 21-OHD can be diagnosed in utero through molecular genetic analysis of fetal DNA. Appropriate prenatal treatment by dexamethasone administration to the at-risk pregnant mother is effective in reducing genital virilization in the fetus, thus avoiding unnecessary genitoplasty in affected females. Current data from large human studies show that prenatal diagnosis and treatment are safe in the short term for both the fetus and the mother. Preliminary data from long-term studies support these results. SN - 0303-7207 UR - https://www.unboundmedicine.com/medline/citation/19101608/Prenatal_diagnosis_and_treatment_of_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-7207(08)00562-5 DB - PRIME DP - Unbound Medicine ER -