Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency: A Genetic Disorder of Interest to Obstetricians and Gynecologists

@article{Trakakis2009CongenitalAH,
  title={Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency: A Genetic Disorder of Interest to Obstetricians and Gynecologists},
  author={Eftihios Trakakis and Constantine Loghis and Demetrios P Kassanos},
  journal={Obstetrical \& Gynecological Survey},
  year={2009},
  volume={64},
  pages={177-189}
}
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and nonclassical form and is one of the most common autosomal recessive inherited diseases in humans. The classical form appears between 1:5000 and 1:15000 among the live neonates of North America and Europe, whereas the nonclassical form occurs in approximately 0.2% of the general white populations. Three alleles are associated with the 21-OH locus and can be combined… 
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Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A CaseReport and a Review of Literature
TLDR
A case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject are described.
Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature
TLDR
A case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject are described.
Nonclassic congenital adrenal hyperplasia.
  • S. Witchel
  • Medicine, Biology
    Current opinion in endocrinology, diabetes, and obesity
  • 2012
TLDR
Goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, 'on-time' puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility.
Reproductive Function and Fertility in Women with Congenital Adrenal Hyperplasia
TLDR
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that is caused by defective steroidogenesis in the adrenal cortex that result in elevated androgens that cause virilisation of the external female genitalia.
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
TLDR
Outcome studies of CAH have confirmed the uniqueness of this mutation such as difficulties in phenotype classification, different fertility, growth, and psychologic issues in comparison with other genotypes, and different mechanisms for increased androgenization in patients carrying P30L mutation.
Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients
TLDR
Persistent acne can be the unique presenting sign of non-classical 21-OHD, and evaluation of CYP21 gene mutations may identify female carriers or patients for genetic counselling.
Two Subjects with Congenital Adrenal Hyperplasia due to 21-OH Hydroxylase Deficiency and Type 1 Diabetes Mellitus: Is there a Genetic Connection?
TLDR
This report presents two patients evaluated through pediatric endocrine clinic secondary to their concurrent diagnosis of 21-OH CAH and T1DM.
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
TLDR
DNA testing of CYP21A2 constitutes an irreplaceable tool to detect severe alleles not just in family members of classical forms but also in mild late-onset forms of the disease and couples, and is also helpful in areas such as assisted reproduction and preimplantation diagnosis.
The Frequency and the Effects of 21‐Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
TLDR
If similar results are obtained in different populations, these mutations, in particular the novel mutation 711 G>A, may be used as markers for prenatal diagnosis.
Nonclassic Congenital Adrenal Hyperplasia
TLDR
Key aspects regarding pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia are reviewed.
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Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH) is divided into the classical and non-classical forms. It is one of the most common autosomal recessive inherited…
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TLDR
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