Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i>CYP21A2</i> gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i>CYP21A2</...
Main Authors: | Rosa Maria Paragliola, Alessia Perrucci, Laura Foca, Andrea Urbani, Paola Concolino |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-07-01
|
Series: | Journal of Clinical Medicine |
Subjects: | |
Online Access: | https://www.mdpi.com/2077-0383/11/13/3818 |
Similar Items
-
Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population
by: Figueras Laura Martínez, et al.
Published: (2023-08-01) -
Pseudogene <i>TNXA</i> Variants May Interfere with the Genetic Testing of CAH-X
by: Qizong Lao, et al.
Published: (2023-01-01) -
A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia
by: Qizong Lao, et al.
Published: (2021-02-01) -
CAH Newborn Screening in India: Challenges and Opportunities
by: Aashima Dabas, et al.
Published: (2020-08-01) -
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan
by: Atsumi Tsuji-Hosokawa, et al.
Published: (2021-06-01)