Gonadal Failure in a Male With 3-M Syndrome.
JCEM Case Rep
; 2(6): luae084, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38847008
ABSTRACT
OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (CUL7). Hypogonadism and hypospadias have been described in only a few males. We report a patient with CUL7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
JCEM Case Rep
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
República Tcheca