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Familial True Hermaphrodism in Three Siblings: Plasma Hormonal Profile and in Vitro Steroid Biosynthesis in Gonadal Structures

The Division of Biology of Reproduction, Unidad de Investigación Científica del Centro Médico Nacional Instituto Mexicano del Seguro Social

Reprint requests: Dr. Adalberto Parra-Covarrubias, Unidad de Investigación Científica del Centro Médico Nacional, Instituto Mexicano del Seguro Social. Apartado Postal 66-737-México 12, D.F.

The in vitro biosynthesis of estrogens and androgens by gonadal tissues of the ovotestes was studied in three siblings with familial true hermaphrodism and correlated with daily steroid and gonadotropin plasma levels. The probands were 15, 13, and 11 years old with normal male phenotype and external genitalia, grade III hypospadias, bilateral scrotal ovotestes, gynecomastia, and no uterus or fallopian tubes. Their karyotypes were 46XX both in peripheral lymphocytes and in gonadal fibroblasts, and no Y chromosome fluorescence was obseived. A fusiform biopsy of each gonad was obtained, and the testicular and ovarian structures were excised and incubated for five days at 37 C with 3.8 µCi of 7³H dehydroepiandrosterone, in Eagle's growth media, 95% O₂ and 5% CO₂. After standard procedures, four extractions with methylene chloride were performed, and the residue was assayed using Sephadex LH no. 20 chromatography. Testosterone (T), ⁴androstenedione (⁴), 5dehydrotestosterone (5DHT), estrone (E₁, estradiol-17 beta (E₂) and estriol (E₃) were measured. Also, during 16 consecutive days daily venous samples were obtained, and FSH, LH, E₂, progesterone (P), and testosterone (T) were determined.

The predominant steroids formed in vitro were estrogens, mainly E₁ by either the testicular or ovarian structures. In the 11-year-old subject, the ovotestes were less active than in his oldest siblings. The patterns of androgen production showed that T was the principal androgen formed, followed by ⁴ and minimal amounts of 5DHT. The daily plasma hormonal profile resembled more closely a female pattern, specially in the 15 and 13-year-old patients.

It is suggested that the ovotestes of these siblings had the enzymatic mechanisms necessary for estrogen and androgen biosynthesis, mainly E₁ and T using a preferential metabolic pathway via androstenedione. Furthermore, it seems that the testicular structures had a greater capability to synthesize estrogens than the ovary.

This work was partially sponsored by a grant of the Ford Foundation.

Received May 5, 1975.

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