Division of Urology, Department of Surgery, The University of Texas Medical Branch at Galveston, Galveston, Texas, USA.
Department of Urology, Stanford University School of Medicine, Stanford, California, USA.
Am J Med Genet A. 2021 Dec;185(12):3601-3605. doi: 10.1002/ajmg.a.61981. Epub 2020 Dec 5.
Robinow syndrome (RS) is a rare, pleiotropic genetic disorder. While it has been reported that males with Robinow syndrome may have genitourinary atypicalities, these have not been systematically studied. We hypothesized that the underlying gene involved plays a role in the clinical variability of associated genital findings and that the phenotypic appearance of the genitalia in RS may have a psychological impact. Urologic-specific examination consisted of detailed examination and a questionnaire to investigate the psychological impact of the genital phenotype. Nine males agreed to a full evaluation. Average age was 19.9 years, penile length was 32.5 mm, stretched length 53 mm, and width 24.4 mm. Penile transposition occurred in all 9 male who allowed full examination. Undescended testicles were noted in 4/10, testicular atrophy in 5/9, buried penis in 7/9, hypospadias in 5/8, and a large penopubic gap (space between dorsum of penis base and pubic bone) in 5/6. In this cohort, 78% answered our semi-quantitative pilot questionnaire that identified diminished sexuality, sexual function, and self-perception. In conclusion, RS has unique, hallmark genital findings including penile transposition, buried penis, undescended testes, and large penopubic gaps. Genital phenotype in males was not shown to correlate with the specific gene involved for each patient. Surgical approaches and other interventions should be studied to address the findings of decreased sexuality and self-perception. It is the authors' opinion that intervention to provide the appearance of penile lengthening be postponed until puberty to allow for maximal natural phallic growth.
罗宾诺综合征（RS）是一种罕见的、多效性的遗传疾病。虽然有报道称 RS 男性可能存在泌尿生殖系统的非典型性，但这些尚未得到系统研究。我们假设，涉及的潜在基因在相关生殖器发现的临床变异性中发挥作用，并且 RS 生殖器的表型外观可能对心理产生影响。泌尿科特定检查包括详细检查和问卷调查，以调查生殖器表型的心理影响。9 名男性同意进行全面评估。平均年龄为 19.9 岁，阴茎长度为 32.5 毫米，伸展长度为 53 毫米，宽度为 24.4 毫米。允许进行全面检查的 9 名男性均发生了阴茎转位。10 名男性中有 4 名存在隐睾，5 名存在睾丸萎缩，7 名存在埋藏阴茎，5/8 名存在尿道下裂，5/6 名存在大阴茎耻骨间隙（阴茎根部背部和耻骨之间的空间）。在这组患者中，78%的人回答了我们的半定量试点问卷，该问卷确定了性欲、性功能和自我认知的降低。总之，RS 具有独特的标志性生殖器特征，包括阴茎转位、埋藏阴茎、隐睾和大阴茎耻骨间隙。男性生殖器表型与每位患者的特定基因无关。应研究手术方法和其他干预措施，以解决性欲和自我认知下降的问题。作者认为，提供阴茎延长外观的干预措施应推迟到青春期，以允许阴茎自然生长达到最大值。
