Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/10996
DC Field | Value | Language |
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dc.contributor.author | Maja Tankoska | en_US |
dc.contributor.author | Violeta Anastasovska | en_US |
dc.contributor.author | Marina Krstevska-Konstantinova | en_US |
dc.contributor.author | Michel Naydenov | en_US |
dc.contributor.author | Mirjana Kocova | en_US |
dc.date.accessioned | 2021-03-16T10:48:28Z | - |
dc.date.available | 2021-03-16T10:48:28Z | - |
dc.date.issued | 2019-05-27 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/10996 | - |
dc.description.abstract | Background Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90-95% 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. Case presentation We 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 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. Conclusions Although 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. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Walter de Gruyter GmbH | en_US |
dc.relation.ispartof | Journal of Pediatric Endocrinology and Metabolism | en_US |
dc.title | Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1515/jpem-2018-0285 | - |
dc.identifier.url | http://www.degruyter.com/view/j/jpem.2019.32.issue-5/jpem-2018-0285/jpem-2018-0285.xml | - |
dc.identifier.url | http://www.degruyter.com/view/j/jpem.2019.32.issue-5/jpem-2018-0285/jpem-2018-0285.pdf | - |
dc.identifier.volume | 32 | - |
dc.identifier.issue | 5 | - |
dc.identifier.fpage | 543 | - |
dc.identifier.lpage | 547 | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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