Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.
17-ß Hydroxysteroid Dehydrogenase type 3
17-ß hydroxystéroide déshydrogénase de type 3
46,XY DSD
Aménorrhée primaire
Difference of sexual development
Différence du développement sexuel
Primary amenorrhea
Variation of sexual development
Variations du développement génital
Journal
Annales d'endocrinologie
ISSN: 2213-3941
Titre abrégé: Ann Endocrinol (Paris)
Pays: France
ID NLM: 0116744
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
29
08
2021
revised:
14
12
2021
accepted:
10
01
2022
medline:
4
4
2023
pubmed:
24
1
2022
entrez:
23
1
2022
Statut:
ppublish
Résumé
17-ß Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an enzyme transforming Delta 4 androstenedione into testosterone. It is involved in the early development of the male genital tract. In this case report, we describe a 46,XY Difference of Sexual Development (DSD) individual with a female phenotype, primary amenorrhea, facial dysmorphia and mental retardation. Gene sequencing using a panel of genes involved in DSD revealed two heterozygous loss-of-function mutations in the HSD17B3 enzyme. Furthermore, a microarray analysis revealed a 37Mb segmental 3p duplication and a recurrent 16p13.11 microduplication. The large 3p duplication is responsible for her mental retardation and her facial dysmorphia. Interestingly, HSD17B3 mutations were identified only in adulthood, at the age of 49. Furthermore, the patient's severe mental retardation and facial dysmorphia are due to genetic abnormalities different from the ones involved in her DSD.
Identifiants
pubmed: 35065919
pii: S0003-4266(22)00005-1
doi: 10.1016/j.ando.2022.01.003
pii:
doi:
Substances chimiques
17-Hydroxysteroid Dehydrogenases
EC 1.1.-
Testosterone
3XMK78S47O
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
260-264Informations de copyright
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