Characteristic external genitalia in male neonates with 5α-reductase deficiency.

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI:10.1507/endocrj.EJ23-0740
Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii
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引用次数: 0

Abstract

There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7-93%) and specificity of 100% (95% CI, 72-100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.

患有 5α 还原酶缺乏症的男性新生儿的特征性外生殖器。
目前还没有报告对 5α 还原酶缺乏症(5αRD)和其他 46,XY 性别差异(DSD)的新生儿外生殖器进行比较。这项研究收集了 31 例日本 46,XY DSD 病例,这些病例在新生儿期接受了外生殖器检查;其中 4 例被诊断为 5αRD 病例,15 例通过 SRD5A2 或尿液类固醇代谢物的基因分析被定义为非 5αRD 病例。我们比较了 5αRD 组和非 5αRD 组的以下特征,并调整了外生殖器男性化不足的严重程度:阴茎拉伸长度(SPL)、龟头宽度、尿道外口位置和未降睾丸的比例。所有 5αRD 病例的外生殖器均为 Quigley 分级 2 级或 3 级。我们比较了 4 例 5αRD 病例和 11 例 2 级或 3 级非 5αRD 病例的表型。5αRD 组 SPL 的中位数(范围)(14 mm [11-16])明显低于非 5αRD 组(22 mm [15-29])(P = 0.003)。SPL 临界值为
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来源期刊
Endocrine journal
Endocrine journal 医学-内分泌学与代谢
CiteScore
4.30
自引率
5.00%
发文量
224
审稿时长
1.5 months
期刊介绍: Endocrine Journal is an open access, peer-reviewed online journal with a long history. This journal publishes peer-reviewed research articles in multifaceted fields of basic, translational and clinical endocrinology. Endocrine Journal provides a chance to exchange your ideas, concepts and scientific observations in any area of recent endocrinology. Manuscripts may be submitted as Original Articles, Notes, Rapid Communications or Review Articles. We have a rapid reviewing and editorial decision system and pay a special attention to our quick, truly scientific and frequently-citable publication. Please go through the link for author guideline.
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