2012
DOI: 10.1590/s0004-27302012000800020 View full text |Buy / Rent full text
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Abstract: SUMMARYDeficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype… Show more

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“…The frequency of the salt-wasting form was also similar to that found in several population studies [13], confirming that it is the most relevant etiology of DSD due to both its high frequency and the high risk of death. Isolated clitoromegaly and syndromic features were also observed, which shows the importance of a wide range of clinical, hormonal, and molecular investigation for DSD, as well as the significance of the finding of dysmorphisms and associated malformations in cases of genital ambiguity [10, 14, 15]. …”
Section: Discussionmentioning
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“…The frequency of the salt-wasting form was also similar to that found in several population studies [13], confirming that it is the most relevant etiology of DSD due to both its high frequency and the high risk of death. Isolated clitoromegaly and syndromic features were also observed, which shows the importance of a wide range of clinical, hormonal, and molecular investigation for DSD, as well as the significance of the finding of dysmorphisms and associated malformations in cases of genital ambiguity [10, 14, 15]. …”
Section: Discussionmentioning
“…The degree of external genitalia virilization is moderate in most 46,XX PORD patients, which is differently than the 21-hydroxylase deficiency. However, 46,XX cases presenting with severe virilization (Prader scores IV and V) including wrong sex assignment have also been described (7,14).…”
Section: Discussionmentioning
“…We described the second PORD case in our population (14), and provided a warning of this diagnostic possibility in patients with genital ambiguity and low serum androgen levels. We stressed the importance of continuous monitoring for glucocorticoid deficiency, the need for hormone replacement therapy with sex steroids at puberty and the benefit of the late surgical approach in facial hypoplasia.…”
mentioning
“…Excessive gonadotropinmediated ovarian stimulation in hypogonadal women with 17OHD is a potential underlying mechanism leading to the development of ovarian cysts. In these cases, the development of ovarian cysts was avoided through dexamethasone, E, and P therapies (37), or, in one case, by the use of GnRH analogues. It is worth mentioning that all patients had reduced uterine volume at diagnosis.…”
Section: Fertility In 17ohdmentioning