Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...

Cyclic replacement therapy using estrogen and progesterone was instituted in 28 patients with gonadal dysgenesis and 13 patients with hypopituitarism. When estriol was given at a dose of 2 mg per day, 10 patients (9 gonadal dysgenesis and 1 hypopituitarism) developed hyperreninemia and 3 of the 10 patients (all gonadal dysgenesis) were associated with hypertension. These side effects subsided w...

BACKGROUND Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis. CASE PRESENTATION Dysgerminoma developed in 3 phenotypic female patients with 46 XY pure gonadal dysgenesis. All patients presented first with abdominopelvic mass. Laparatom...

Three populations of Drosophila melanogaster from northern California were surveyed for the ability to produce and resist gonadal dysgenesis in the P-M system of hybrid dysgenesis. Males from all three populations produced low to moderate levels of gonadal dysgenesis in crosses to Oregon-R M females. Most females had the P cytotype, but the M cytotype occurred occasionally. The three population...

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...

Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural ...

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...

Hashimoto's thyroiditis has previously been associated with gonadal dysgenesis. Recent evidence suggests that Graves's disease and Hashimoto's thyroiditis are disorders of cell-mediated immunity and may have a common genetic predisposition. However, patients with both Graves's disease and the Turner syndrome have been reported only rarely. Three such cases are presented and the relation among g...