PMID- 16544044
OWN - NLM
STAT- MEDLINE
DCOM- 20060705
LR  - 20190917
IS  - 0004-2730 (Print)
IS  - 0004-2730 (Linking)
VI  - 49
IP  - 1
DP  - 2005 Feb
TI  - [Rare forms of female pseudohermaphroditism: when to investigate?].
PG  - 126-37
AB  - The congenital adrenal hyperplasia is the commonest cause of ambiguity of the 
      external genitalia at birth, due to classic forms of 21-hydroxylase and 
      11beta-hydroxylase deficiencies. 3beta-hydroxysteroid dehydrogenase (3betaHSD) is 
      a rare disorder that affects both sexes and female patients may have ambiguous 
      genitalia. Familial glucocorticoid resistance is characterized by increased 
      cortisol secretion without clinical evidence of hypercortisolism, but with 
      manifestations of androgen and mineralocorticoid excess, caused by glucocorticoid 
      receptor gene mutation, and rarely can lead to female pseudohermaphroditism. 
      Placental aromatase deficiency is a rare disease characterized by a masculinized 
      female fetus and a virilized mother, which should be considered in the absence of 
      fetal adrenal hyperplasia and maternal androgen-secreting tumours. Finally, 
      mutations of P450 oxidoreductase causes disordered steroidogenesis with ambiguous 
      genitalia. The investigation of abnormal sexual development requires an initial 
      karyotype analysis and serum 17OH progesterone, 11 deoxycortisol, 17 
      pregnenolone, and androgen measurements to assess the diagnosis of different 
      forms of congenital adrenal hyperplasia.
FAU - Castro, Margaret de
AU  - Castro Md
AD  - Divisao de Endocrinologia, Departamento de Clinica Medica, Faculdade de Medicina 
      de Ribeirao Preto, USP, SP. castrom@fmrp.usp.br
FAU - Elias, Lucila Leico
AU  - Elias LL
LA  - por
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Causas raras de pseudo-hermafroditismo feminino: quando suspeitar?
DEP - 20060316
PL  - Brazil
TA  - Arq Bras Endocrinol Metabol
JT  - Arquivos brasileiros de endocrinologia e metabologia
JID - 0403437
RN  - 0 (Glucocorticoids)
RN  - EC 1.1.- (3-Hydroxysteroid Dehydrogenases)
SB  - IM
MH  - 3-Hydroxysteroid Dehydrogenases/deficiency
MH  - Adrenal Hyperplasia, Congenital/complications/enzymology
MH  - Disorders of Sex Development/*diagnosis/etiology
MH  - Female
MH  - Glucocorticoids/physiology
MH  - Humans
MH  - Infant, Newborn
RF  - 78
EDAT- 2006/03/18 09:00
MHDA- 2006/07/06 09:00
CRDT- 2006/03/18 09:00
PHST- 2006/03/18 09:00 [pubmed]
PHST- 2006/07/06 09:00 [medline]
PHST- 2006/03/18 09:00 [entrez]
AID - S0004-27302005000100017 [pii]
AID - 10.1590/s0004-27302005000100017 [doi]
PST - ppublish
SO  - Arq Bras Endocrinol Metabol. 2005 Feb;49(1):126-37. doi: 
      10.1590/s0004-27302005000100017. Epub 2006 Mar 16.