Clinical Experiences with Cases of Intersex

Ahn, Woung Choon; Lee, Hak Song

Abstract

In recent years active research on sexual anomalies, especially on the conditionsof intersex is rapidly progressing. It is not until Barr et al, have clarifiedthe epochmaking discovery of sex chromosome test that the concept of chromosomalintersex was firmly established. Reported here are 6 cases of intersex admittedto the Department of Urology, Seoul National University Hospital. Aceerding tothe results of observation on the sex chromatin. external or internal genitalia,in some, hormonal balance, utilizing various methods of urological examination, 6 cases of intersex have been confirmed. These patients consist of 1 case of truehermaphroditism, 2 cases of male pseudohermaphroditism. 2 cases of femalepseudohermaphroditism with congenital adrenogenital syndrome and one case ofKinefelter's syndrome. In summary the first case of true hermspbroditismapparently looked like a hypospadiac male with atrophied testis as gonad but afterpuberty the ovarian activity became manifest and gynecomastia developed. Therefore is out of the question that this case is a true hermaprodite possessing bothtestis and ovary. Considering this patient's sex of rearing, correction of hypospadia was performed. This patient leads his social life by virtue oftestosterone supply. The second case is a male pseudohermaphroditism patientconfirmed by exploratory laparotomy which revealed degenerative change of femalegonads and reproductive organ. However, the active gonad was testis andaccordingly it is apparent that this is a male pseudohermaphroditism case. Thispatient had the hope to live as a female. Therefore according to the patient's own wish, hypospadia correction plus phallectomy and vaginoplasty were performedand was feminized. Estrogen therapy has been received, but masculinizing symptomsare still present. The 3rd case had severe hypospadia with cryptorchism. Theexternal appearance, however, was like that of a female. Laparotomy revealed no gonads or reproductive organ. Biopsy revealed atrophic testis. Therefore thediagnosis of sale pseudohermaphroditism was made. This child was performedhypospadia correction and was decided to be reared as a male. The 4th case afirmly established adrenogenital syndrome patient, has received clitoridectomyand cortisone therapy was indicated and is under observation. The 5th case alsois a child with adrenogenital syndrome. Bilateral partial adrenalectomy wasperformed and simultaneously cortisone therapy was continued. However, clinical manifestations of Cushing's syndrome appeared because of overdosage of cortisone. In this case, clitoridectomy and vaginoplasty were performed. The 6th patient was a chromosomal intersex. Chromosomal test was positive and large gynecomastia was present. Testicular biopsies revealed characteristic findings of the Klinefelter's syndrome. There were hyalinzed seminiferous tubules, hypertrophy of the basement membrane, and an increased number of interstitial cells appearing in clumps. Testosterone therapy was performed to correct mental symptoms and decreased libido. Gynecomastia is to be removed surgically. It is important on the diagnosis of intersex to confirm the existence of urogenital sinus. Urogenital sinus was present in 4 of our cases. As with 2nd case, adaptability of patients with intersex will be more secure to make the social sex as a female than to make it as a male. Recent related literatures were reviewed.