{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T23:53:37Z","timestamp":1726444417432},"reference-count":62,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,5,27]]},"abstract":"Abstract<\/jats:title>\n\nBackground<\/jats:title>\nSteroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90\u201395% of all cases with congenital adrenal hyperplasia (CAH). The classical simple virilizing (SV) form of the disease causes virilization of the external genitalia in newborn females and pseudo-precocious puberty in both sexes, due to reactive androgen overproduction.<\/jats:p><\/jats:sec>\n\nCase presentation<\/jats:title>\nWe describe a 3.5-year-old girl presenting with pubarche, P2 according to Tanner, advanced bone age of 6 years and 10 months, and high serum levels of 17-hydroxyprogesterone (17-OHP). Molecular analysis of the nine most common pseudogene-derived CYP21A2<\/jats:italic> point mutations was performed in the patient and her family members using the polymerase chain reaction\/amplification-created restriction site (PCR\/ACRS) method. We detected the P30L\/I172N genotype in the patient. She had inherited a mild P30L mutation from her mother and a severe I172N mutation from her father.<\/jats:p><\/jats:sec>\n\nConclusions<\/jats:title>\nAlthough the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient. A continuous regimen of hydrocortisone at a recommended dose failed to decrease the 17-OHP sufficiently. Careful tapering of the dose did not help, and her pubic hair advanced to P3 according to Tanner. Individually tailored treatment is warranted in this patient.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0285","type":"journal-article","created":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T09:04:42Z","timestamp":1556269482000},"page":"543-547","source":"Crossref","is-referenced-by-count":2,"title":["Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L\/I172N genotype"],"prefix":"10.1515","volume":"32","author":[{"given":"Maja","family":"Tankoska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violeta","family":"Anastasovska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Krstevska-Konstantinova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Naydenov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirjana","family":"Kocova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref191","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1172\/JCI115897","article-title":"Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase 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