Endocrine Abstracts

Introduction: Testicular regression syndrome is defined as partial or complete absence of testicular tissue in the presence of a normal 46,XY male karyotype. This syndrome is very rare with an estimated prevalence of 1 case/20.000 males. Here we decribe a case of a testicular regression syndrome in an 18 years old patient.

Case Report : We report the case of an 18 years old male patient followed for testicular regression syndrome since the age of 2, which was diagnosed by: The absence of palpable gonads with micropenis on the clinical examination, the absence of testicles in normal or ectopic position on the abdominopelvic and scrotal ultrasound, the hypergonadotropic hypogonadism profil, a 46,XY karyotype and the presence, at laparoscopy, of an inguinal testicle without spermatic cord measuring 13 mm on the right side and a cystic formation with a 3x7 mm tissue margin on the left one. The patient was put on androgen substitution therapy, with currently a good clinical evolution: penis with a normal size with grade 5 pilosity. Testicular prostheses with psychological support are planned.

Discussion: Testicular regression syndrome (TRS) is defined by a complete or parteil absence of tescticular tissue which may be uni- or bilateral. TRS is more common on the left side and is usually accompanied by a closed internal ring and compensatory hyperplasia of the controlateral testis. This syndrome is also known as vanishing testis, and presents clinically as nonpalpable testis. The phenotype is variable depending on the period when the gonadal regression occurs in utero. Indeed, in the presence of normal male external genitalia, it can be assumed that the fetal testis was present and functional during the early period of development with sufficient androgen production to ensure normal or subnormal male external genitalia development. In this condition, gonadal regression occurred late in fetal life, beyond the 12th week of pregnancy. However, in the presence of a micropenis, as in the case of our patient, some authors have suggested the prior presence of an intrinsic alteration of the testicular tissue before its regression.

References: 1. H. Latrech et al. Embryonic testicular regression syndrome: about 6 cases. Pan African Medical Journal. December 2014.2). Tian-Qu He et al. Testicular regression syndrome: A retrospective analysis of clinical and histopathological features in 570 cases. Frontiers in pediatrics, 31 october 2022.