Gonadal Failure in a Male With 3-M Syndrome

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F24%3A43927115" target="_blank" >RIV/00064173:_____/24:43927115 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/24:43927115
Result on the web
<a href="https://doi.org/10.1210/jcemcr/luae084" target="_blank" >https://doi.org/10.1210/jcemcr/luae084</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1210/jcemcr/luae084" target="_blank" >10.1210/jcemcr/luae084</a>

Result language
angličtina
Original language name
Gonadal Failure in a Male With 3-M Syndrome
Original language description
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.
Czech name
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Czech description
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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