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

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dc.authorid0000-0003-3289-6887en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0001-7004-6803en_US
dc.authorid0000-0002-5299-9480en_US
dc.contributor.authorBeştaş, Aslı
dc.contributor.authorBolu, Semih
dc.contributor.authorÜnal, Edip
dc.contributor.authorKarakaya, Amine Aktar
dc.contributor.authorEroz, Recep
dc.contributor.authorTekin, Mehmet
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2022-12-20T08:00:21Z
dc.date.available2022-12-20T08:00:21Z
dc.date.issued2022en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_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.citationBeştaş, A., Bolu, S., Ünal, E., Karakaya, A.A., Eroz, R., Tekin, M. ve diğerleri. (2022). A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency. Endocrine, 75(3), 927-933.en_US
dc.identifier.doi10.1007/s12020-021-02914-8
dc.identifier.endpage933en_US
dc.identifier.issn1355-008X
dc.identifier.issn1559-0100
dc.identifier.issue3en_US
dc.identifier.pmid34724156
dc.identifier.scopus2-s2.0-85118334339
dc.identifier.scopusqualityQ2
dc.identifier.startpage927en_US
dc.identifier.urihttps://link.springer.com/article/10.1007/s12020-021-02914-8
dc.identifier.urihttps://hdl.handle.net/11468/11092
dc.identifier.volume75en_US
dc.identifier.wosWOS:000713575900001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBeştaş, Aslı
dc.institutionauthorÜnal, Edip
dc.institutionauthorKarakaya, Amine Aktar
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEndocrine
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.titleA rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiencyen_US
dc.titleA rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency
dc.typeArticleen_US

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