A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
In: Women's Health (17455057), Jg. 18 (2022), S. 1-6
Online
academicJournal
Zugriff:
Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3years follow-up outcomes; 17-OHD is a rare form of congenital adrenal hyperplasia. The patient presented with primary amenorrhea, underdeveloped secondary sexual characteristics, hypertension and hypokalemia. Hormonal findings revealed decreased estrogen and androgen, increased progesterone, low cortisol concentration and compensatory high adrenocorticotropic hormone level. Mutation analysis of the CYP17A1 gene identified the c.1459_1467del GACTCTTTC homozygous deletion in exon 8, namely, D487_F489del mutation, resulting in the deletion of Aspartate–Serine–Phenylalanine amino acids. The patient’s father and mother were all heterozygous carriers of this mutation. The diagnosis and follow-up outcomes provided useful insights to support clinical decision-making and appropriate treatment. [ABSTRACT FROM AUTHOR]
Copyright of Women's Health (17455057) is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Titel: |
A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
|
---|---|
Autor/in / Beteiligte Person: | Dai, Li-Zhen ; Ma, Hong ; Ke, Jian-Fang ; Lin, Chen-Shi ; Huang, Yanling ; Tian, Yuan ; Chen, Danling |
Link: | |
Zeitschrift: | Women's Health (17455057), Jg. 18 (2022), S. 1-6 |
Veröffentlichung: | 2022 |
Medientyp: | academicJournal |
ISSN: | 1745-5057 (print) |
DOI: | 10.1177/17455057221122597 |
Schlagwort: |
|
Sonstiges: |
|