Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
CHARGE
CHD7
DSD
Kallmann syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
revised:
25
01
2023
received:
29
08
2022
accepted:
30
01
2023
pmc-release:
01
05
2024
medline:
10
4
2023
pubmed:
17
2
2023
entrez:
16
2
2023
Statut:
ppublish
Résumé
CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known CHD7 variants (9 pathogenic/likely pathogenic and 5 VOUS) and a range of reproductive and endocrine phenotypes. Reproductive organ anomalies were observed in 8 of 14 individuals and were more commonly noted in males (7/7), most of whom presented with micropenis and/or cryptorchidism. Kallmann syndrome was commonly observed among adolescents and adults with CHD7 variants. Remarkably, one 46,XY individual presented with ambiguous genitalia, cryptorchidism with Müllerian structures including uterus, vagina and fallopian tubes, and one 46,XX female patient presented with absent vagina, uterus and ovaries. These cases expand the genital and reproductive phenotype of CHD7 disorder to include two individuals with genital/gonadal atypia (ambiguous genitalia), and one with Müllerian aplasia.
Identifiants
pubmed: 36794641
doi: 10.1002/ajmg.a.63148
pmc: PMC10501305
mid: NIHMS1926620
doi:
Substances chimiques
CHD7 protein, human
EC 3.6.4.12
DNA Helicases
EC 3.6.4.-
DNA-Binding Proteins
0
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1418-1424Subventions
Organisme : NCI NIH HHS
ID : K08 CA248704
Pays : United States
Organisme : NCATS NIH HHS
ID : KL2 TR001879
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL095783
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008638
Pays : United States
Informations de copyright
© 2023 Wiley Periodicals LLC.
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