Vinaykumar P Hedaginal¹, Shreya Bhate²*, Fehmida Najmuddin³, Soumya Ahuja¹ and Vaibhavi Pandya¹

¹Junior Resident, Department of Paediatrics, DY Patil Deemed to be University, Navi Mumbai, India
²Senior Resident, Department of Paediatrics, DY Patil Deemed to be University, Navi Mumbai, India
³Associate Professor, Department of Paediatrics, DY Patil Deemed to be University, Navi Mumbai, India

*Corresponding Author: Shreya Bhate, Senior Resident, Department of Paediatrics, DY Patil Deemed to be University, Navi Mumbai, India.

Received: February 20, 2023; Published: March 01, 2023

Abstract

A 1 year old infant who was raised as female presented with microphallus, bifid labia like scrotum with bilaterally undescended testis, a blind ending vagina. There was a severe abnormal external genital development. But normal development of Wolffian duct derivatives including spermatic cord and testis with absent uterus and ovaries. Endocrinological investigations were within normal limits along with testosterone. Karyotyping and Whole exon sequence aided in diagnosing the patient with Pseudo-vaginal perineo-scrotal hypospadias who was counselled and referred to higher centre for further management.

Keywords: Ambiguous Genitalia; Androgen Action; Dihydrotestosterone; Disorders of Sexual Differentiation (DSD), Genetic Testing

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Citation

Citation: Shreya Bhate., et al. “A Rare Case of Ambiguous Genitalia: Pseudovaginal Perineoscrotal Hypospadias”. Acta Scientific Paediatrics 6.4 (2023): 01-03.

Copyright

Copyright: © 2023 Shreya Bhate., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.