Left Hemiscrotal Agenesis and Right Scrotal Hypotrophy with Bilateral Cryptorchidism. Case Report
DOI:
https://doi.org/10.18041/2390-0512/biociencias.2.13669Keywords:
Agenesis, Ambiguous genitalia, Biological gender, PseudohermaphroditismAbstract
Scrotal agenesis is a rare malformation associated with cryptorchidism. It is part of the phenotypic variability of ambiguous genitalia that precludes the determination of biological sex. This article explains the embryological development of external and internal genitalia based on genetic, gonadal, and phenotypic differentiation, including the morphogenetic fields involved. The case involves a three-year-old patient with left scrotal agenesis and underdevelopment of the right scrotum, who was born at home and had not received medical care. Physical examination revealed a phallus with male characteristics and testicles in the inguinal regions. Once the diagnosis was established, treatment was initiated with topical dihydrotestosterone on the genital swellings and monitoring gonadoblastomas using tumor markers. The scrotums did not develop; an orchiectomy was performed, and the patient is currently under medical and psychological follow-up to support his social adjustment during puberty. The diagnosis is partial androgen insensitivity.
Downloads
References
1) Fang Y, Lin J, Wang WW, Qiu J, Xie Y, Sang LP, Mo JC, Luo JH, Wei JH. Unilateral congenital scrotal agenesis with ipsilateral cryptorchidism: A case report. World J Clin Cases 2019; 7(22): 3807-3811 URL: https://www.wjgnet.com/2307-8960/full/v7/i22/3807.htm DOI: https://dx.doi.org/10.12998/wjcc.v7.i22.3807.
2) Enriquez, Diego; Rittler, Mónica; Pomata, Jorgelina; Brunetto, Oscar. Genitales ambiguos: incidencia, presentación de un caso clínico, orientación diagnóstica y recomendaciones. Rev. Hosp. Matern. Infant. Ramon Sarda ; 17(1): 25-30, 1998
3) Patel K, Dessi D, Trivedi S. Case Report of Male Pseudohermaphroditism (Androgen Insensitivity Syndrome): Congenital Disorder of Sexual Differentiation. J Assoc Physicians India. 2023 Jan;71(1):1. PMID: 37116050.
4) Villafañe VE, Blasco JA. Hermafroditismo verdadero. Un caso 46XY/46XX. Patología Rev Latinoam 2011;49(2):138-140
5) Bruce Carlson. Embriología humana y biología del desarrollo. Quinta edición. Editorial Elsevier. 2014.
6) L. Audí, M. Fernández-Cancio, G. Pérez de Nanclares y L. Castaño. Disgenesias gonadales y pseudohermafroditismo masculino, An Pediatr 2006;64(Supl 2):23-37
7) Díaz-Hernández V, Merchant-Larios H. Consideraciones generales en el establecimiento del sexo en mamíferos. Tip Revista Especializada en Ciencias Químico-Biológicas [Internet]. 2017;20(1):27-39. Recuperado de: https://www.redalyc.org/articulo.oa?id=43248282003
8) WNT4 Wnt family member 4 [ Homo sapiens (human)]. Gene ID: 54361, updated on 17-Jun-2024. (https://www.ncbi.nlm.nih.gov/gene/54361)
9) Moore KL, Persaud TVN, Embriología Clínica.7ª ed. Barcelona, España: Ed. Elsevier Saunders. 2013. p. 1-576
10) Eliezer DD, Goel H, Turner VM, Deshpande A. Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature. BMJ Case Rep. 2019 Sep 4;12(9):e229938. doi: 10.1136/bcr-2019-229938. PMID: 31488442; PMCID: PMC6731811.
11) Murcia Pascual F. J, Gracia Rodríguez R, Vázquez Rueda F, López Pereira P, Paredes Esteban R. M. Tumores testiculares y paratesticulares en la edad pediátrica. Archivos Españoles de Urología [Internet]. 2016;69(10):691-697. Recuperado de: https://www.redalyc.org/articulo.oa?id=181077755005)
12) R.M. Valverde Gómez, N. Santoyo Martín, A. Arenas García, R. García Pinilla, J.A. Delgado Casado. Diagnóstico de tumores testiculares en Atención Primaria, Medicina de Familia. SEMERGEN, Volumen 47 (6) 2021, Pages 427-429, https://doi.org/10.1016/j.semerg.2021.03.013
13) Hughes IA, Werner R, Bunch T, Hiort O. Androgen insensitivity syndrome. Semin Reprod Med. 2012 Oct;30(5):432-42. doi: 10.1055/s-0032-1324728. Epub 2012 Oct 8. PMID: 23044881.
14) American Psychiatric Association (APA). Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington, VA: American Psychiatric Press; 2013
15) Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP. Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatric Endocrinol Rev. 2015, Jun;12(4):373-87.
16) Juan Carlos Zenteno, Bertha Chávez, Gloria Queipo, Susana Kofman-Alfaro. pseudohermafroditismo masculino por mutación en el gen del receptor de andrógenos. Reporte de un Caso. Rev Med Hosp Gen Mex 2003; 66 (4): 208-211
17) Topcu V & Col. Investigation of androgen receptor gene mutations in a series of 21 patients with 46, XY disorders of sex development. J Pediatr Endocrinol Metab 2015 jul 21. PMID: 26197461 DOI: 10.1515/jpem-2014-0500
18) Pérez-Alija Fernández, A.; García-Muñoz, S.; Puerta-Jiménez, I.; Jiménez-Torres, R. Diagnóstico genético de hipospadia pseudovaginal perineoescrotal en paciente adolescente. Actualidad Médica Número 810 · Mayo/Agosto 2020 Páginas 125 a 127. DOI: 10.15568/am.2020. 810.cc03
19) Beltrán, O. I. ., Ramírez, A. ., Garzón, C. ., & Orjuela, C. . (2016). Síndrome de insensibilidad androgénica completa debido a mutación intrónica en el gen del receptor androgénico. Presentación de un caso. Revista Médica Sanitas, 19(2), 116-120. Recuperado a partir de //revistas.unisanitas.edu.co/index.php/rms/article/view/479
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Biociencias

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.