Gonadal Failure in a Male With 3-M Syndrome

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11120/24:43927115

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Gonadal Failure in a Male With 3-M Syndrome

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Gonadal Failure in a Male With 3-M Syndrome

Popis výsledku anglicky

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.

Druh

J_ost - Ostatní články v recenzovaných periodicích

CEP obor

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OECD FORD obor

30209 - Paediatrics

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JCEM Case Reports

ISSN

2755-1520

e-ISSN

2755-1520

Svazek periodika

2

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

5

Strana od-do

"luae084"

Kód UT WoS článku

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EID výsledku v databázi Scopus

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