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Scholars Journal of Medical Case Reports | Volume-12 | Issue-04
Bilateral Congenital Anorchidism: Case Study
C. Mukamarakiza, R. Ouaddane Alami, H. Zoulgami, A. Niyonsaba, M. Combe, J.G. Lopez, M. Ahsaini, S. Mellas, J. El Ammari, M.F. Tazi, M.J. Fassi, M.H. Farih
Published: April 23, 2024 |
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DOI: 10.36347/sjmcr.2024.v12i04.031
Pages: 517-519
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Abstract
Embryonic testicular regression syndrome (ETRS) or congenital bilateral anorchidism (CBA) is a highly rare syndrome defined by the complete absence of testicular tissue in a patient with a male karyotype. The phenotype varies depending on when gonadal regression occurs in utero. Clinically, a micropenis, hypoplastic scrotum, empty, without perceived testicles are observed. Hormonal assessments reveal collapsed or completely absent testosterone levels and AMH (anti-Mullerian hormone) levels. Diagnosis is confirmed by laparoscopic exploration. Management relies on androgen supplementation and placement of testicular prostheses.