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Two cases of gonadal dysgenesis and congenital absence of the vagina are presented. One of the 2 patients studied had a normal female karyotype, an absent vagina, and a uterus represented by 2 thin fibrous bands ending just beneath the urinary bladder in the midline. The other patient had features of Turner syndrome, a 45,X chromosomal complement, and an absent vagina with infantile uterus and fallopian tubes. As gonadal anomalies may coexist in patients with congenital absence of the vagina, laparoscopic evaluation of such patients may be of diagnostic value.

The streak gonad syndrome is described in detail with a reveiw of the literature and a report on the diagnosis of 38 additional patients. Certain signs and symptoms of the syndrome are always present, ie, female phenotype, primary amenorrhea, infantile breast status, sparse public and axillary hair, infantile external genitalia and vagina, atrophic vaginal smear, immature uterus, high serum follicle-stimulating hormone (FSH) level, low urinary estrogen, retarded ossification, osteoporosis, and the streak gonad. Therefore, they are considered to be cardinal features. Certain somatic anomalies known as associated stigmata occur with varying frequency in accordance with the karyotype. Thus, patients with the streak gonad syndrome can be classified into groups according to their chromosomal complements. It is believed that the term streak gonad syndrome instead of Turner's syndrome, gonadal dysgenesis, or other terms is a much more accurate description of the syndrome, at least from the clinician's point of view.

A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from both peripheral blood leukocytes and skin fibroblasts were consistent with a 46,X,i(Xq) karyotype. Laparoscopy revealed both uterus and gonads to be absent. Developmental failure of the müllerian system in association with gonadal agenesis in a patient with 46,X,i(Xq) has not been previously reported. The basis for müllerian duct regression in this patient remains unclear. Recommendations for treatment are made.