We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
- Authors
Leka-Emiri, Sofia; Taibi, Ludmia; Mavroeidi, Vasiliki; Vlachopapadopoulou, Elpis A.; Kafetzi, Maria; Michalacos, Stefanos; de Roux, Nicolas
- Abstract
Deficiency of 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2) is a rare type of congenital adrenal hyperplasia (CAH), causing impaired steroid hormone production in both adrenals and gonads. Phenotype ranges, according to the genetic defect, from the salt-wasting form in both sexes to undervirilization in males and virilization in females. We present a 13-month-old male infant who was admitted to the hospital with signs of adrenocortical insufficiency and genital ambiguity. Clinical presentation, hormonal profile, laboratory evaluation, and karyotype were suggestive of the salt-wasting form of CAH due to 3βHSD2 deficiency. Mutational analysis revealed a missense mutation c.776C>T (p.Thr259Met), inherited by the mother, and a frameshift deletion c.818-819delAA (p.Lys273ArgFs*7), inherited by the father. Both mutations are considered pathogenic. To our knowledge this is the first case of an undervirilized male infant with salt wasting bearing this pathogenic frameshift deletion p.Lys273ArgFs*7 in compound heterozygosity with the missense mutation p.Thr259Met.
- Subjects
FRAMESHIFT mutation; MISSENSE mutation; ADRENOGENITAL syndrome; HETEROZYGOSITY; SALT; INFANTS
- Publication
Sexual Development, 2022, Vol 16, Issue 1, p64
- ISSN
1661-5425
- Publication type
Article
- DOI
10.1159/000519062