1994
DOI: 10.1097/00019616-199407000-00009
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The Syndrome of 5α-Reductase Deficiency

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Cited by 26 publications
(15 citation statements)
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“…If the condition is not diagnosed in infancy or childhood, subjects with 5α-reductase-2 deficiency have been reported to frequently undergo a change in gender role during or after adolescence, confirming our first reports (6, 13, 1820). In the Dominican community, at puberty a change in gender from female to male occurred in the vast majority of subjects who were unambiguously reared as females (6, 13, 1820).…”
Section: Clinical Presentationsupporting
confidence: 89%
“…If the condition is not diagnosed in infancy or childhood, subjects with 5α-reductase-2 deficiency have been reported to frequently undergo a change in gender role during or after adolescence, confirming our first reports (6, 13, 1820). In the Dominican community, at puberty a change in gender from female to male occurred in the vast majority of subjects who were unambiguously reared as females (6, 13, 1820).…”
Section: Clinical Presentationsupporting
confidence: 89%
“…56 Deficiency of 5 a-reductase-2 causes male pseudohermaphroditism usually presenting with pseudovaginal perineoscrotal hypospadia at birth. Virilisation occurs at puberty with phallic growth and testicular descent.…”
mentioning
confidence: 99%
“…Recently, Salbert et al [44] hypothe sised 5a-reductase deficiency as a pathophysiology of sex reversal in his male patient with Smith-Lemli-Opitz syn drome, in whom an increased ratio of serum testosterone (5(3) to dihydrotestosterone (5a) was confirmed. Family and molecular genetic studies were necessary in both cases to determine if it was primary or secondary 5a-reductase deficiency [15].…”
Section: Discussionmentioning
confidence: 99%
“…Clinical data of the full-term (birth weight 2,600-4.800 g) newborns and infants (n = 147) suspected of CAH and the final diagnosis (31) female ( to 11 (3-hydroxylase and 3(3-hydroxysteroid dehydroge nase can be overlooked [3,12], Other causes of primary adrenal insufficiency, which can mimic the CAH(2l-OH) salt-wasting (SW) form in males, should also be consid ered, e.g., congenital adrenal hypoplasia, hereditary adre nocorticotropic hormone unresponsiveness [ 13]. Genital ambiguity in male newborns is also present in steroid bio synthetic defects due to 17a-hydroxylase, 17,20-desmolase, 5a-reductase, and 17P-hydroxvsteroid deficiencies [2,[14][15][16].…”
mentioning
confidence: 99%