Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency

Abstract

The case of a girl carrying a balanced X/autosome translocation: 46,X,t(X;18)(q22.3;q23),inv(9)(p11q13) and pituitary hormone deficiency (growth hormone and gonadotropin) is described. The patient had a doll-like facies, with frontal bossing and poor development of the nasal bridge, increased adipose tissue especially of the trunk, short stature and absence of pubertal development without Ullrich-Turner stigmata apart from urinary tract malformation. The lack of spontaneous puberty seems related both with gonadotropin deficiency, as suggested by hormonal data and MRI of the pituitary region, and with gonadal dysgenesis, due to the X/autosome translocation, involving the critical region of the X chromosome essential for normal ovarian function. Growth velocity was unsatisfactory during growth hormone treatment; a higher dose of growth hormone similar to that used in Ullrich-Turner patients, would probably have improved her growth rate.