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Summary Precocious puberty with signs of masculinization and elevation of choriogonadotrophic activity in a girl 7½ years old was found to be due to a hormonally active ovarian tumour. The tumour was composed of germ cells, Leydig cells, Sertoli granulosa-like cells, trophoblastic and teratoid portions, and was therefore, termed a terato-chorio-gonadoblastoma. Hormonal data were correlated with the histological and ultrastructural findings. This unusual tumour caused precocious puberty coupled with virilization and high choriogonadotrophic activity in a girl 7½ years old.

Cryptophthalmos syndrome is a presumed autosomal recessively inherited complex of malformations including fusion of the eyelids, microphthalmia, projection of the hair on the lateral forehead, notching of the alae nasi, cardiac defects, and genital abnormalities. Bilateral inguinal masses were noted in a phenotypic female with features of the cryptophthalmos syndrome. Peripheral blood chromosome analyses revealed 46,XX, in 41 cells. Serum testosterone and androstenedione which were both less than 25 ng/dl, rose to the adult female range after HCG administration. Frozen section of the biopsied right mass revealed numerous primary oocytes and some follicular development. Microscopic examination of the left mass revealed numerous primary follicles, some with prominent granulosa cells and multiple oocytes. Some follicles were distorted with evidence of gonadoblastoma in situ. There were also numerous accessory tubules of Wolffian origin appended to the ovary. Gonadoblastoma arising from dysgenetic gonads, not previously reported in this syndrome, rarely occurs in the absence of a Y chromosome containing cell line. In our patient, there was no additional evidence of Y chromosomal mosaicism nor Y-specific DNA. The presence of this tumor in our patient tends to contradict the prevailing Y chromosomal theory of the etiology of gonadoblastoma, but may support a recent hypothesis based on dysfunction of gonadal maturational process.

In 7 patients, aged 7 to 19 years, germ cell neoplasia was seen in their dysgenetic gonads. Four had male pseudohermaphroditism with 46 XY karyotypes, bilateral testes, ambiguous genitalia and persistent mullerian structures. Two had 46 XY pure gonadal dysgenesis and one was a 46 XX true hermaphrodite with bilateral ovo-testes. The gonads were intra-abdominal or inguinal. The most common tumour was a gonadoblastorna, present in 6 patients, bilaterally in 4 and oestrogen-secreting in 1. Malignancy was seen in tissue adjacent to the gonadoblastoma in 4 of the patients in the form of carcinoma-in-situ in the seminiferous tubules in 2, seminoma in 1 and yolk sac tumour with trophoblastic differentiation in 1. In one of the patients with pure gonadal dysgenesis only dysgerminoma was seen. Five variants of germ cell neoplasia were therefore present in these patients who appear to be at high risk of malignancy even during the pre-pubertal period. This reinforces the indication for early gonadectomy in XY gonadal dysgenesis and removal of intra-abdominal testicular tissue in true hermaphroditism.

Mixed gonadal dysgenesis is characterised by female ductal differenciation in spite of presence of testicular tissue. Two cases of familial mixed gonadal dysgenesis are reported. The first patient had a female phenotype and presented at 13 years undeveloped breast, primary amenorrhea and enlarged clitoris. She had normal female external genitalia and a narrow vaginal introitus distinct from urethra. Normal vagina, uterus and tubes were opacified by external genitography. At laparotomy uterus appeared small but Falloppe tubes were normal. Streak gonad was found in the place of the right ovary and the site of the left gonad was occupied by an ovoid tumor which histologic examination occurred a gonadoblastoma with abnormal testicular tissue. The caryotype in blood culture was XY. The brother presented at birth hypospadias with bilateral cryptorchidism. He was 8 years when referred to the Paediatric Center because of ambiguous external genitalia. He had a male phenotype with labial fusion and fusiform urogenital sinus opening at base of phallus. Gynecography disclosed normal vagina and outset of uterus. Exploratory laparotomy revealed a right gonad: dysgenetic testis was found at biopsy. A next surgical laparotomy is programmed on opposite gonad. Caryotype was XY in blood culture. These reports may be classified in mixed gonadal dysgenesis group. Original findings = Same a−symetric testicular dysgenesis in two siblings, but with different phenotype. Its origin can be found in a structural abnormality of Y chromosome.

The risk of malignancy in dysgenetic gonads of patients with a Y chromosomal component seems to be significant. The age at onset of malignancy is unknown. Two cases with germ cell neoplasms are presented, both with normal S-alpha-fetoprotein levels. Case I: A 46, XY true hermaphrodite with ambiguous external genitalia, persistent Mullerian structures, a cryptorcide testis on the left and an ovary on the right side. At the age of 10 years a laparotomy was performed. The plasma levels of testosterone was 5.4 nmol/1, dihydrotestosterone 1.0 nmol/l, oeotradiol

• The frequency of germ cell neoplasms in girls with 46-XY gonadal dysgenesis suggests that germ cells may persist in the dysgenetic gonads for many years. A phenotypic female infant with a karyotype of 46-XY in blood, skin, and gonads had a few ova in primordial follicles and numerous germ cells in her dysgenetic gonads at the age of 3 months. At 3 years and 10 months of age her gonads contained no primordial follicle and the only remaining germ cells were in a gonadoblastoma. We propose that germ cells are lost from dysgenetic gonads much more rapidly than from normal gonads, but that the rate of loss in patients with a karyotype of 46-XY may be less than the rate of loss in patients with a karyotype of 45-XO. ( Am J Dis Child 133:373-375, 1979)

Renal anomalies occur with sufficient frequency in Turner Syndrome to warrant routine imaging. Previously using IVP, in 36 of 98 TS patients, we found: significant obstruction with hydronephrosis (3), unilateral renal agenesis (1), horseshoe kidney (6), renal ectopia (3), and minor anomalies of the calyces and collecting system (23). Since introducing ultrasonography, we have studied 18 patients, demonstrating the presence of hydronephrosis, horseshoe kidney, ectopia, extrapelvic calyx, and unilateral absence. Pelvic imaging, considered essential in TS patients with a Y chromosome, had not been otherwise used to define gonadal structures. With US, we have demonstrated, so far, a gonadoblastoma in 1 of 2 patients with a Y chromosome, while most TS patients studied routinely showed no gonadal structures at all. However, in 3 adolescent patients with spontaneous menses and one with spontaneous breast development and normal serum gonadotropins, we found unilateral or bilateral ovarian structures. In 3 other adolescents whose spontaneous menses had ceased 2+ years ago, ovaries were not seen on US. Thus, the presence of ovaries demonstrable with US correlates with active ovarian function. In summary, ultrasonography can replace IVP in routine renal imaging in TS; it can also assess pelvic anatomy, detect gonadal tumors, and document functioning ovarian tissue.

A 14 1/2 year old female with short stature, bone age 12, Tanner I breasts, pubic hair and clitoromegaly (3.5 x 1.5 cm) was studied. Lymphocyte karyotypes were 45,X/46,Xr(X)/46,Xdel(X) (p21:;q11). Abdominal and pelvic sonogram and CTT were normal. Elevated and fixed levels of serum testosterone were noted. There was indication of expression of H-Y antigen in blood lymphocytes evaluated in the ELISA. Bilateral streak gonads were surgically removed and contained multiple clusters of Leydig cells. Postoperatively the T level decreased to 13 ng/dl. Thus, in the patient's gonads there was evidence of functional Leydig cells in the absence of a Y line. Presence of H-Y antigen may define a group of patients with gonadal dysgenesis who are at risk for development of gonadoblastoma.

TESTICULAR TUMORS are uncommon, comprising 0.7% of all malignant neoplasms in males in one large survey.1The majority are found in men 20 to 40 years of age. The highest incidence occurs between the ages of 29 and 34 years during which period they are the most common malignant tumor in males.2 Malignant testicular tumors occurring in brothers have been reported in only five sets of twins and three sets of nontwins. In addition, the rare tumor, gonadoblastoma, has been reported in 6-year-old monozygous twins with a pure gonadal dysgenesis who were phenotypically female but who had a 44 A-XY karyotype.3 Champlin4in 1930 reported the first cases of testicular tumors in twins. He described identical twins, one of whom developed a "sarcoma" of the right testicle seven years before his brother developed an "embryonal carcinoma—so called round cell sarcoma," also of the right testicle. Domrich

Objective: The objective of this study is to investigate clinical characteristics and treatment outcomes of patients with disorder of sexual development (DSD) who underwent gonadectomy at a single tertiary center. Materials and Methods: We retrospectively enrolled patients with DSD who received gonadectomies in our hospital from 2000 to 2015. The clinical presentations, laboratory tests, image studies, operative findings, and pathology reports were collected by reviewing medical records. Results: A total of 18 patients with DSD were analyzed, including 17 46XY karyotype and one 45X/46XY karyotype. Among them, 17 patients were assigned female gender. The most common diagnoses were androgen insensitive syndrome (n = 5), 46XY gonad dysgenesis (n = 5), and 17α-hydroxylase deficiency (n = 3). Initial presentations included amenorrhea (n = 9), ambiguous genitalia (n = 5), and abnormal prenatal screening (n = 3). The peak age of gonadectomies was 5 at infantile (1–2 years) and 7 at adolescent period (11–15 years). A total of 19 gonadectomies were performed without complications; pure inguinal approach in 6, inguinal plus laparoscopy exploration in 13. There were no malignancies in all resected gonads; in addition, spermatogenesis was found in only one resected gonad. Conclusions: Female gender assignment was more frequently chosen in our series. The presentations and diagnoses in children with DSD were various; it is important to select individualized treatment strategy for these patients.