{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:48:34Z","timestamp":1758818914842},"reference-count":32,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>3b-hydroxysteroid dehydrogenase II (3\u03b2-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (\u0394517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter paper 17OHP on newborn screening test was performed by immunofluorometric assay, and serum determinations of 17OHP and \u0394517OHP, by radioimmunoassay. A 46,XY infant with genital ambiguity and adrenal crisis at three months of age presented a positive result on newborn screening for CAH. Serum determinations of 17OHP and \u0394517OHP were elevated, and a high \u0394517OHP\/cortisol relation was compatible with the diagnosis of 3\u03b2-HSD deficiency. Molecular analysis of the HSD3B2 gene from the affected case revealed the presence of the homozygous p.P222Q mutation, whereas his parents were heterozygous for it. We present the first report of 3\u03b2-HSD type II deficiency genotype-proven detected at the Newborn Screening Program in Brazil. The case described herein corroborates the strong genotype-phenotype correlation associated with the HSD3B2 p.P222Q mutation, which leads to a classic salt-wasting 3\u03b2-HSD deficiency. Further evaluation of 17OHP assays used in newborn screening tests would aid in determining their reproducibility, as well as the potential significance of moderately elevated 17OHP levels as an early indicator to the diagnosis of other forms of classic CAH, beyond 21-hydroxylase deficiency.<\/jats:p>","DOI":"10.1590\/0004-2730000003098","type":"journal-article","created":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T16:30:18Z","timestamp":1410193818000},"page":"650-655","source":"Crossref","is-referenced-by-count":12,"title":["3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test"],"prefix":"10.1590","volume":"58","author":[{"given":"Vitor Guilherme Brito de","family":"Ara\u00fajo","sequence":"first","affiliation":[{"name":"University of Brasilia,  Brazil; Hospital de Apoio de Brasilia,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata Santarem de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"University of Brasilia,  Brazil; UnB,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kallianna Paula Duarte","family":"Gameleira","sequence":"additional","affiliation":[{"name":"Hospital de Apoio de Brasilia,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e1tia Barbosa","family":"Cruz","sequence":"additional","affiliation":[{"name":"UnB,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Lofrano-Porto","sequence":"additional","affiliation":[{"name":"University of Brasilia,  Brazil; UnB,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Speiser PW","year":"2003","journal-title":"N Engl J Med"},{"key":"ref2","series-title":"Portaria n\u00ba 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