Penoscrotal Hypospadias presenting as Ambiguous Genitalia mimicking Congenital Adrenal Hyperplasia: A Case Report with Review of Literature

Authors

  • Bibechan Thapa Department of Pediatrics, KIST Medical College and Teaching Hospital, Mahalaxmi-1, Lalitpur, Nepal https://orcid.org/0000-0002-4783-6572
  • Henish Shakya Department of Pediatrics, KIST Medical College and Teaching Hospital, Mahalaxmi-1, Lalitpur, Nepal

DOI:

https://doi.org/10.61122/jkistmc107

Keywords:

Ambiguous genitalia, Disorders of sexual differentiation, Congenital Adrenal Hyperplasia, Penoscrotal hypospadias, 17-hydroxy-progesterone

Abstract

Ambiguous genitalia is a rare congenital anomaly where sex of the newborn cannot be readily distinguished because of atypical appearance of the external genitalia. Hypospadias can also present as ambiguous genitalia. We report a case of a preterm male baby born with ambiguous genitalia with undescended testis and low set ear. Initially congenital adrenal hyperplasia was suspected but 17-alpha-hydroxyprogesterone level was normal, later diagnosis of penoscrotal hypospadias was made. Ultrasonography revealed bilateral testicular sac. Ambiguous genitalia though is commonly caused due to congenital adrenal hyperplasia, it can also be a manifestation of penoscrotal hypospadias. Hormonal, biochemical and radiological approach along with genetic analysis will help reach definitive diagnosis.

Keywords:Ambiguous genitalia; Disorders of sexual differentiation; Congenital Adrenal Hyperplasia; Penoscrotal hypospadias; 17-hydroxy-progesterone

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Published

2021-01-31

How to Cite

1.
Thapa B, Shakya H. Penoscrotal Hypospadias presenting as Ambiguous Genitalia mimicking Congenital Adrenal Hyperplasia: A Case Report with Review of Literature. J. KIST Med. Col [Internet]. 2021 Jan. 31 [cited 2024 Nov. 23];3(5):39-42. Available from: https://jkistmc.org.np/jkistmc/index.php/JKISTMC/article/view/107

Issue

Vol. 3 No. 5 (2021): Journal of KIST Medical College

Section

Case Report

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Copyright (c) 2021 Journal of KIST Medical College

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