A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters-Reference-Cited by-同舟云学术

A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

Published:2019-08-29 Issue:1 Volume:36 Page:24-29
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Espinosa-Herrera Fernando¹²^ORCID,Espín Estefanía¹,Tito-Álvarez Ana M.³,Beltrán Leonardo-J¹,Gómez-Correa Diego¹,Burgos German¹,Llamos Arianne⁴,Zurita Camilo⁵,Rojas Samantha⁶,Dueñas-Espín Iván⁷,Cueva-Ludeña Kenny⁸,Salazar-Vega Jorge¹⁹,Pinto-Basto Jorge¹⁰

Affiliation:

1. Escuela de Medicina, Facultad de Ciencias de la Salud, Universidad de las Américas (UDLA), Quito, Ecuador;

2. Sociedad Ecuatoriana de Medicina Familiar (SEMF), Hospital Vozandes Quito, Quito, Ecuador;

3. Escuela de Enfermería, Facultad de Ciencias de la Salud, Universidad de las Américas (UDLA), Quito, Ecuador;

4. Facultad de Ciencias Médicas, de la Salud y de La Vida, Escuela de Odontología, Universidad Internacional del Ecuador (UIDE), Quito, Ecuador;

5. Unidad de Investigaciones en Biomedicina, Zurita & Zurita Laboratorios, Cátedra de Inmunología, Facultad de Medicina, Universidad Central del Ecuador (UCE), Quito, Ecuador;

6. Hospital Isidro Ayora de Loja, Ministerio de Salud Pública del Ecuador, Quito, Ecuador;

7. Instituto de Salud Pública, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador;

8. Hospital General Docente de Calderón, Ministerio de Salud Pública del Ecuador, Quito, Ecuador;

9. Hospital Eugenio Espejo, Ministerio de Salud Pública del Ecuador, Quito, Ecuador;

10. Molecular Diagnostics and Clinical Genomics Laboratories, CGC Genetics, Porto, Portugal

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2019.1650342

Reference23 articles.

1. 17α-hydroxlyase/17, 20-lyase Deficiency in Three Siblings with Primary Amenorrhea and Absence of Secondary Sexual Development

2. 17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients

3. Genetics of Congenital Adrenal Hyperplasia

4. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

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1. Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case report;2023-11-29

2. Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism;Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-09-07

3. 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation;Clinical Case Reports;2022-07

4. Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report;World Journal of Clinical Cases;2022-04-16

5. A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency;Endocrine;2021-11-01