Laureano Daniela P, Kirjner Vitória, Ferraro Lethicia C, Carvalho Clarissa G, Leite Julio César L, Hemesath Tatiana P, Costa Eduardo Corrêa, Guaragna-Filho Guilherme, Leistner Sandra
Post Graduation Program of Child and Adolescent Health, 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre, Brazil.
Genetics Service, Hospital de Clínicas, Porto Alegre, Brazil.
J Pediatr Endocrinol Metab. 2024 Oct 4;37(12):1091-1095. doi: 10.1515/jpem-2024-0154. Print 2024 Dec 17.
Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the gene in a patient with disorder of sex development (DSD).
We describe a patient with a homozygous Gly183Ser variant in the gene. Their sibling also carries this variant in homozygosity, while both parents have it in a heterozygous state. The patient presents with predominantly female traits and was raised as a girl. Although the siblings exhibit distinct phenotypic characteristics, both have assumed a male gender identity.
This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient's ethnic background.
2型类固醇5α还原酶缺乏症（5α-RD2）是一种由该基因中的突变引起的常染色体隐性疾病。这种病症的特征是2型5α还原酶的酶活性降低。该基因发生突变的个体在46，XY个体中可能表现出各种男性化不足的症状。我们对一名性发育障碍（DSD）患者的该基因进行了全面分析。
我们描述了一名该基因存在纯合Gly183Ser变异的患者。其兄弟姐妹也为该变异的纯合子，而父母均为杂合状态。该患者主要表现出女性特征，并被当作女孩抚养长大。尽管这对兄弟姐妹表现出不同的表型特征，但两人都认定了男性性别身份。
本研究揭示了这对兄弟姐妹的不同表型，突出了该基因中建立基因型-表型相关性的复杂性。值得注意的是，Gly183Ser变异在非洲裔个体中似乎更为普遍，这与我们患者的种族背景相符。
