A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency

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dc.authoridTekin, Mehmet/0000-0002-1157-1314
dc.authorwosidTekin, Mehmet/ABG-8307-2020
dc.contributor.authorBestas, Asli
dc.contributor.authorBolu, Semih
dc.contributor.authorUnal, Edip
dc.contributor.authorAktar Karakaya, Amine
dc.contributor.authorEroz, Recep
dc.contributor.authorTekin, Mehmet
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-12-01T18:49:36Z
dc.date.available2021-12-01T18:49:36Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractAim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.en_US
dc.identifier.doi10.1007/s12020-021-02914-8
dc.identifier.issn1355-008X
dc.identifier.issn1559-0100
dc.identifier.scopus2-s2.0-85118334339en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s12020-021-02914-8
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10750
dc.identifier.wosWOS:000713575900001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEndocrineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrimary amenorreaen_US
dc.subjectDelayed pubertyen_US
dc.subjectHypertensionen_US
dc.subjectCyp17A1 Geneen_US
dc.subject17-Hydroxylase/17,20-Lyase Deficiencyen_US
dc.subjectChinese Patientsen_US
dc.subjectMutationsen_US
dc.subject17,20-Lyaseen_US
dc.subjectDeletionen_US
dc.subjectFamilyen_US
dc.titleA rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiencyen_US
dc.typeArticleen_US

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