Etiology and clinical profile of ambiguous genitalia an overview of 10 years experience.
Indian Pediatr
;
2006 Nov; 43(11): 974-9
Article
Dans Anglais
| IMSEAR
| ID: sea-7095
ABSTRACT
One hundred nine patients presenting with ambiguous genitalia over the past 10 years (year 1995 to 2004) to Pediatric Endocrine Service of our hospital were reviewed. On the basis of clinical and investigative evaluation like hormonal and biochemical estimations, imaging studies, karyotype and invasive techniques like genitoscopy, laproscopy, open exploration and biopsy of gonads when indicated, these cases could be categorised as Genetic females with virilisation or FPH (n = 30 cases, 27.5 % Genetic males undervirilised or MPH (n = 57 cases, 52.3 %), Disorders of gonadal differentiation (n = 11, 10.1 %) Nine patients with gonadal dysgenesis and 2 with true hermaphroditism and the syndromic form of ambiguous genitalia (n = 2, 1.8 %). Congenital adrenal hyperplasia (CAH) was the underlying cause in all cases of FPH, the salt wasting form in 23/30 and simple virilising form in 7. Major categories in MPH group were Androgen insensitivity syndrome in 28 % (16/57) and 5a reductase deficiency in 23% (13/57).
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Troubles du développement sexuel
/
Femelle
/
Humains
/
Mâle
/
Nouveau-né
/
Enfant
/
Enfant d'âge préscolaire
/
Études rétrospectives
/
Hyperplasie congénitale des surrénales
/
Inde
Type d'étude:
Etude d'étiologie
/
Étude observationnelle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2006
Type:
Article
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