Endocrine Abstracts

Introduction

XY testicular agenesis is a very rare disease. The phenotype of persons suffering is variable depending when the gonadic regression in utero occurs.

Observation

We have reported a 26 years old patient case, without particular history, monitored for puberty delay from the age of 17 years. The clinical examination reveals a very tall patient: 1m92, with macroskelia, a penis of normal size, a classified P2 pubic pilosity, absence of axillary pilosity as well as at the level of face, no gynecomastia nor spontaneous or induced galactorrhea. Absence of palpable gonads in intrabotal or inguinal position. Morphological exploration did not visualize testes in normal or ectopic position with a hypoplastic prostate. The hormonal assessment found a hypogonadism, hypergonadotropic, negative HCG test. The karyotype is normal: 46 XY eliminating a Klinefelter syndrome. The exploratory laparotomy did not find a gonad in the abdominopelvic position.

Discussion

The TRS is a rare etiology, of unknown cause, it is an elimination diagnosis, at the end of a negative etiological investigation without objectifying morphological or hormonal stigma of gonad within our patient, we completed a TRS in the absence of Mullerian structure and the normality of the external genitalia. The patient received hormone replacement therapy with a good clinical course without improving the fertility prognosis.

TRS: testicular regression syndrome.