Diego Yeste Cristina Aguilar-Riera Gennaro Canestrino Paula Fernández-Alvarez María Clemente Núria Camats-Tarruella
10.3389/fendo.2022.884107
Front Endocrinol (Lausanne)
2022 Jun 28;13:884107.
mamld1 gene different sex development (dsd) hypogonadotropic hypogonadism hypospadias microphallus minipuberty
CC BY
https://pubmed.ncbi.nlm.nih.gov/35837313/
Hypogonadism / genetics Hypospadias / genetics
Hypogonadism / genetics Hypospadias / genetics Case Reports DNA-Binding Proteins / genetics Dihydrotestosterone Humans Luteinizing Hormone Male Nuclear Proteins / genetics Testis / metabolism Testosterone Transcription Factors / genetics Transcription Factors / metabolism DNA-Binding Proteins MAMLD1 protein, human Nuclear Proteins Transcription Factors Dihydrotestosterone Testosterone Luteinizing Hormone
PMC9274080
35837313
A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report
2022