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
*Shared Authorship: Vinaykumar P Hedaginal, Junior Resident, Department of Paediatrics, DY Patil Deemed to be University, Navi Mumbai, India.
Received: February 24, 2023; Published: April 04, 2023
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
Citation: Vinaykumar P Hedaginal., et al. “A Rare Case of Ambiguous Genitalia: Pseudovaginal Perineoscrotal Hypospidia". Acta Scientific Paediatrics 6.5 (2023): 03-05.
Copyright: © 2023 Vinaykumar P Hedaginal., 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.