Testicular Regression Syndrome: A Series of 7 Cases

Abstract

Introduction: Testicular regression syndrome (TRS) is a rare cause of disorders of sex development in 46,XY individuals. It corresponds to the partial or complete disappearance of testicular tissue following initially normal male differentiation.

Objective: To describe the clinical, biological, radiological, and evolutionary characteristics of a series of 7 patients followed for TRS, and to compare them with recent literature data.

Materials and Methods: Retrospective descriptive study conducted on 7 46,XY patients followed at an endocrinology consultation center in Rabat. Clinical, hormonal, morphological, and surgical data were analyzed.

Results: The mean age at diagnosis of TRS was 9.4 ± 3.6 years (range: 2–12 years). All patients had absent palpable gonads, low or undetectable testosterone levels, a hypergonadotropic hypogonadism profile, and a 46,XY karyotype. Imaging was negative in 100% of cases. Laparoscopy, performed in all patients, confirmed the absence of functional testicular tissue. Androgen replacement therapy was initiated in all patients with good clinical response.

Conclusion: TRS should be considered in any case of bilateral anorchia in a 46,XY individual. Laparoscopy remains the reference examination to confirm diagnosis. Management is based on androgen replacement therapy and psychological support.

Keywords: Testicular Regression Syndrome (TRS); Disorders of Sex Development (DSD); 46,XY Karyotype; Bilateral Anorchia; Gonadal Dysgenesis; Hypergonadotropic Hypogonadism

Citation

K. Gorgi, M. Chaouche, K. Rifai, H. Iraqi, M.H. Gharbi. Testicular Regression Syndrome: A Series of 7 Cases. WebLog J Endocrinol Diabetes. wjed.2026.a2208. https://doi.org/10.5281/zenodo.18448878