Presentation, Diagnosis, and Follow-Up Characteristics of 17&#945;-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.

Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, Leman

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.

Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, Leman.

Afiliación

Dundar I; Department of Pediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.
Akinci A; Department of Pediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.
Camtosun E; Department of Pediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.
Ciftci N; Department of Pediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.
Kayas L; Department of Pediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.

Sex Dev ; 17(1): 43-50, 2023.

Article en En | MEDLINE | ID: mdl-36652930

Asunto(s)

Hiperplasia Suprarrenal Congénita; Hipertensión; Hipopotasemia; Humanos; Femenino; Adolescente; Hiperplasia Suprarrenal Congénita/diagnóstico; Hiperplasia Suprarrenal Congénita/genética; Amenorrea/genética; Hipopotasemia/genética; Estudios de Seguimiento; Mutación/genética; Esteroide 17-alfa-Hidroxilasa/genética; Hipertensión/genética; Exones

Palabras clave

17α-Hydroxylase deficiency; CYP17A1 gene; Disorders/differences in sex development; Hypertension; Hypokalemia; Primary amenorrhea/delayed puberty

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperplasia Suprarrenal Congénita / Hipertensión / Hipopotasemia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Sex Dev Asunto de la revista: CIENCIAS DO COMPORTAMENTO Año: 2023 Tipo del documento: Article País de afiliación: Turquía

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google