Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Seminars in Reproductive Medicine

• Publication date

  2012-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1055/s-0032-1324726PMID 23044879
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2008cited by this paper
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  2008cited by this paper
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  2006cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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• CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding*

  2003cited by this paper
• 5α-androstane-3α, 17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α, 17α-diol-20-one as a key intermediate

  2003cited by this paper
• 5α-reduced C21 steroids are substrates for human cytochrome P450c17

  2003cited by this paper
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  2003cited by this paper
• STEROID DEFICIENCY SYNDROMES IN MICE WITH TARGETED DISRUPTION OF Cyp11a1

  2002cited by this paper
• Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

  2002cited by this paper
• Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.

  2002cited by this paper
• Amino acid substitution of arginine 80 in 17beta-hydroxysteroid dehydrogenase type 3 and its effect on NADPH cofactor binding and oxidation/reduction kinetics.

  2002cited by this paper
• Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

  2002cited by this paper
• The genetics, pathophysiology, and management of human deficiencies of P450c17.

  2001cited by this paper
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  2001cited by this paper
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• Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

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• Male Pseudohermaphroditism due to 17&bgr;‐Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management

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  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1996cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1992cited by this paper
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  1992cited by this paper
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  1991cited by this paper
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  1991cited by this paper
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  1982cited by this paper
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• SEXUAL DIFFERENTIATION

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  2019influential citation
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