Leydig Cell Hypoplasia and Pituitary Stalk Agenesis: Genetic Link or Coincidence

Abstract

Leydig cell hypoplasia illustrates a rare category of 46, XY DSD "disorders of sex development". We report a case of a patient assigned to the female sex carrying a DSD with 46 XY karyotype on Leydig cell hypoplasia associated with pituitary stalk agenesis. This association has not been described yet in the literature. The patient was first admitted at the age of five for failure to thrive (FTT) with an abnormality of sexual development. The FTT was related to complete GH deficiency on pituitary stalk agenesis. Upon investigation, the patient was diagnosed as carrying a DSD 46, XY. The endocrine evaluation revealed low testosterone, FSH, and LH levels with a negative HCG test. The abdominopelvic ultrasound objectified two testicles in the inguinal folds. ²After discussing the case in a multidisciplinary consultation meeting, and taking into account the wishes of the family and the psychiatric expertise, the selected sex that was assigned to the patient was female. At the age of 19, the patient underwent a bilateral gonadectomy and the anatomopathological examination confirmed the diagnosis of Leydig cell hypoplasia. Leydig cell hypoplasia is a rare autosomal recessive syndrome, diagnosed by clinical, biological, radiological, histological, and genetic evidence. Its association with pituitary stalk agenesis has not been described in the literature. This syndrome is characterized by the inability of the chorionic gonadotropin luteinizing hormone receptor in Leydig cells to respond to luteinizing hormone, thereby causing feminization of a male fetus. The treatment has three components: hormonal treatment, surgical treatment, and psychological care.