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 (). Hypogonadism and hypospadias have been described in only a few males. We report a patient with 7 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.
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| http://dx.doi.org/10.1210/jcemcr/luae084 | DOI Listing |
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Article Synopsis
- 3M syndrome is a rare genetic disorder that causes growth deficiencies and distinct facial features, typically diagnosed through genetic testing for specific mutations in the CUL7, OBSL1, or CCDC8 genes.
- In a case study, a Chinese couple faced challenges with an abnormal pregnancy showing 3M phenotypes; whole-exome sequencing revealed two new mutations in the CUL7 gene as potential causes.
- After genetic counseling, the couple chose preimplantation genetic testing to reduce the risk of having another child affected by 3M syndrome, leading to the successful birth of a healthy baby.
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