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

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

References

1. Kumar G and Barboza-Meca JJ. “5 Alpha Reductase Deficiency”. In StatPearls. Treasure Island (FL): StatPearls Publishing (2022).
2. Randall VA. “Role of 5 alpha-reductase in health and disease”. Baillière's Clinical Endocrinology and Metabolism 2 (1994): 405-431.
3. Cheon CK. “Practical approach to steroid 5alpha-reductase type 2 deficiency”. European Journal of Pediatrics 1 (2011): 1-8.
4. “Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics”. Pediatrics1 Pt 1 (2000): 138-142.
5. Byne W. “Developmental endocrine influences on gender identity: implications for management of disorders of sex development”. Mount Sinai Journal of Medicine 7 (2006): 950-959.
6. Sahakitrungruang T., et al. “Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism”. Fertility and Sterility 5 (2008): e11-15.
7. Sultan C., et al. “Disorders linked to insufficient androgen action in male children”. Human Reproduction Update3 (2001): 314-322.
8. Houk CP., et al. Writing Committee for the International Intersex Consensus Conference Participants. “Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference”. Pediatrics2 (2006): 753-757.

Citation

Citation: Vinaykumar P Hedaginal., et al. “A Rare Case of Ambiguous Genitalia: Pseudovaginal Perineoscrotal Hypospidia". Acta Scientific Paediatrics 6.5 (2023): 03-05.

Copyright

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.