Hypoplastic External Genitalia in Association with X;Autosome Chromosome Trans Location.

Abstract

<h3>Background</h3> X; autosome translocation usually presents with phenotypic features similar to Turner syndrome. We present three female siblings with X;autosome translocation and hypoplastic external genitalia. <h3>Methods</h3> Case presentation. <h3>Results</h3> Three female siblings, ages 14, 16, and 18 years, presented for routine check up. All had been seen in the past for short stature, primary amenorrhea, and other features similar to those seen in Turner syndrome. On genital exam, each was found to have hypoplastic external genitalia with absent clitoris and labia minora. Pelvic ultrasound in all subjects shows normal but prepubertal uterus and ovaries. Two subjects have unbalanced translocations with karyotype 46.X, der(9)t(9;X)(q11.2;q22.3). This abnormal chromosome complement results in the loss of the short arm of the X chromosome and the gain of an extra copy of the long arm of chromosome 9. The third subject and her mother have balanced translocations with the karyotype 46, X.t (9;X)(qI1.2;q22.3). X-inactivation studies show skewed inactivation of the normal X chromosome, while the two girls with the unbalanced karyotype had skewed inactivation of the translocation product. All subjects have growth hormone deficiency. The two older siblings were able to gain height and to menstruate regularly after growth hormone and estrogen/progesterone therapy. The youngest patient is still receiving growth hormone. <h3>Conclusion</h3> X;autosome translocations may be associated with hypoplastic external genitalia but normal internal genitalia. Balanced carriers can be fertile. To our knowledge. the presence of hypoplastic external genitalia in association with a X;autosome translocation has not been previously reported. This should be added to the possible causes of hypoplastic external genitalia.