Gonadal Failure in a Male With 3-M Syndrome

TL;DR

A male with 3-M syndrome experienced gonadal failure after puberty, highlighting the need for monitoring pubertal development in such cases.

Contribution

This case report adds to the limited understanding of hypogonadism in males with 3-M syndrome.

Findings

The patient had a CUL7 pathogenic variant and presented with bifid scrotum and hypospadias at birth.

He experienced spontaneous puberty but later showed testicular regression and elevated gonadotropin levels.

The case emphasizes the importance of monitoring pubertal function in individuals with 3-M syndrome.

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.

Figures