Cytogenetic and clinical observations on West Indian patients with primary amenorrhea

Forty-seven patients with primary amenorrhea, oligomenorrhea, and secondary amenorrhea were investigated by chromosome examination, and laparotomy was performed in six. Thirty-six percent of patients with primary amenorrhea showed sex chromosomal abnormality, and two cases showed autosomal anomalities. We feel that undetected mosaicism was present in some of the sexual infantile patients with apparently normal complement; probably, several of this group have gonadal dysgenesis. No abnormality was detected in patients with virilization. However, we now believe that any patient without adrenal hyperplasia should have laparotomy and removal of abnormal gonadal tissue. Laparotomy and gonadal extirpation may be considered for patients with streak gonads without virilization. Patients with normal secondary sexual development deserve full and early investigation of the genital tract, as they may have congenital anomalities associated with normal ovaries (Summary)

XYY Sex chromosomes in a Jamaican with orthopaedic abnormalities

A male Jamaican patient is described with a bilateral deformities of the knee, mental retardation, and hypogonadism. He was found to have retarded bone age, varicose ulceration, a height of 227 cm (89 1/2in.) and a XYY sex chromosome constitution. The relation of these features to the presence of 2 Y chromosomes is discussed, and a paternal age effect is suggested in the origin of the condition. (Summary)