Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency

Abstract

Introduction

46,XX testicular disorder of sexual development (DSD) may present prenatally as a mismatch between phenotype and karyotype. Enlarged nuchal translucency is an abnormal sign of many disorders. We present a first trimester fetus with increased nuchal translucency that was later determined to be a 46,XX testicular DSD.

Case presentation

A first-trimester pregnancy ultrasound revealed enlarged nuchal translucency. Chorionic villous sampling documented a 46,XX karyotype. Subsequent ultrasounds identified male external genitalia. FISH analysis documented a SRY gene translocation. At birth, the infant had normal male internal and external genitalia.

Conclusions

46,XX testicular DSD may present in the first trimester with an enlarged nuchal translucency.

Keywords:

• 46,XX testicular DSD
• prenatal diagnosis
• enlarged nuchal translucency
• hypergonadotropic hypogonadism

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

M.S., V. MF. S. and am participated in the clinical management of the patient. L.R and F.R. conducted and interpreted the genetic workup. M.S., J. SC., R.C. and I.D. contributed to the patient’s endocrinological assessment and significantly influenced clinical decisions. Am held ultimate responsibility for the clinical decisions. M.S. drafted the work and all authors revised it critically for important intellectual content. All authors approved the final version submitted and are accountable for all aspects of the work. All authors read and approved the final manuscript.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.