{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T17:53:20Z","timestamp":1789408400070,"version":"build-2803163510"},"reference-count":36,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,3,1]]},"abstract":"<jats:p>Congenital adrenal hyperplasia due to 3\u03b2-hydroxysteroid dehydrogenase\/\u03945-\u03944-isomerase (3\u03b2HSD), a rare autosomal recessive disorder that affects both sexes, has a heterogeneous clinical presentation ranging from the severe salt-wasting to the non-salt-wasting forms and results from mutations in the HSD3B2 gene. The hormonal criteria for diagnosing the mild variant of 3\u03b2HSD deficiency have been controversial because the initial studies were not based on genetic evidence. We investigated the relationship between the hormonal phenotype and HSD3B2 genotype in 22 patients with clinical and\/or biochemical features suggestive of 3\u03b2HSD2 deficiency, including nine female children with premature pubarche, 12 hirsute females, and one boy with salt-wasting and ambiguous genitalia. Serum 17-hydroxypregnenolone (\u03945-17P), cortisol (F), 17-hydroxyprogesterone, dehydroepiandrosterone, and androstenedione levels were determined by RIA and were compared with Tanner pubic hair stage-matched control groups. The genomic DNA was extracted, and the entire HSD3B2 gene was amplified by PCR followed by automatic sequencing. Besides two different mutations previously observed in three patients (T259M and G129R\/P222Q mutations), we observed the P222Q mutation in the male patient with salt-wasting form of 3\u03b2HSD2 deficiency. Basal and ACTH-stimulated \u03945-17P levels (nanomoles per liter) ranged from 4\u201341 (\u22120.2 to 14 sd) and 36\u201397 (3.5\u201315.5 sd), respectively, in patients without mutation in HSD3B2 and from 69\u2013153 (25\u201357 sd) and 201\u2013351 (36\u201365 sd), respectively, in patients with mutation in HSD3B2. Basal and ACTH-stimulated \u03945-17P to F ratios ranged from 11\u2013159 (0.5\u201325 sd) and 42\u2013122 (2.4\u201311.3 sd), respectively, in patients without mutation in HSD3B2 and from 181-1700 (29\u2013282 sd) and 487-1523 (52\u2013167 sd), respectively, in patients with mutation in HSD3B2. The hormone findings in the genotype-proven patients suggest that the following hormonal criteria are compatible with 3\u03b2HSD2 deficiency in children with premature pubarche: ACTH-stimulated \u03945-17P and \u03945-17P to F ratios at or greater than 201 and 487 nmol\/liter, respectively, equivalent to or greater than 36 and 52 sd above matched control mean. Basal and ACTH-stimulated \u03945-17P and \u03945-17P to F ratios in all genotype-proven patients in childhood were unequivocally higher than the levels of either genotype-normal patients. All the other parameters overlapped between the patients with and without mutations in the HSD3B2 gene. In conclusion, genotyping more patients in the present study, we confirm that patients with mutations in the HSD3B2 gene have extremely elevated basal and ACTH-stimulated \u03945-17P levels and \u03945-17P to F ratios. Therefore, these data refine the hormonal criteria proposed to predict more accurately 3\u03b2HSD2 deficiency.<\/jats:p>","DOI":"10.1210\/jc.2004-1552","type":"journal-article","created":{"date-parts":[[2005,3,9]],"date-time":"2005-03-09T23:59:24Z","timestamp":1110412764000},"page":"1287-1293","source":"Crossref","is-referenced-by-count":71,"title":["Refining Hormonal Diagnosis of Type II 3\u03b2-Hydroxysteroid Dehydrogenase Deficiency in Patients with Premature Pubarche and Hirsutism Based on HSD3B2 Genotyping"],"prefix":"10.1210","volume":"90","author":[{"given":"Livia M.","family":"Mermejo","sequence":"first","affiliation":[{"name":"Departamento de Clinica Medica (L.M.M., A.C.M., M.d.C.) Brazil 14049-900;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucila L. K.","family":"Elias","sequence":"additional","affiliation":[{"name":"Departamento de Fisiologia (L.L.K.E.), School of Medicine of Ribeirao Preto, University of Sa\u0303o Paulo, Ribeirao Preto, Sa\u0303o Paulo, Brazil 14049-900;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Marui","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (S.M., B.B.M.), School of Medicine of University of Sa\u0303o Paulo, Sa\u0303o Paulo, Brazil 01060-970"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayrton C.","family":"Moreira","sequence":"additional","affiliation":[{"name":"Departamento de Clinica Medica (L.M.M., A.C.M., M.d.C.) 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