Studies on gonadal dysgenesis: variable expressivity of the XY testicular dysgenesis syndrome; two case reports (original) (raw)
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Partial gonadal dysgenesis in a patient with a marker Y chromosome
American Journal of Medical Genetics, 1992
We evaluated a patient with partial gonadal dysgenesis including a right dysgenetic testis and a left streak gonad with rudimentary fallopian tube and uterus. She had ambiguous external genitalia and was raised female. Although her height is normal (25th centile at function of both TDF and the "anti-Turner" genes.
Andrologia
46,XX testicular disorder of sex development (46,XX TDSD) (MIM 400045) was first described by De la Chapelle, Hortling, Niemi, and Wennström (1964) and generally characterised by a male phenotype despite having a female karyotype. The incidence is estimated to be one in 20,000 male newborns. Patients with sex-determining region Y (SRY)-positive 46,XX TDSD are usually asymptomatic males diagnosed in puberty or adulthood because of hypergonadotropic hypogonadism, microorchidism, and infertility due to azoospermia and Sertoli cells
Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development
Systems Biology in Reproductive Medicine, 2013
The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.
Testis morphology in patients with idiopathic hypogonadotropic hypogonadism
Human Reproduction, 2005
BACKGROUND: Adult patients with idiopathic hypogonadotropic hypogonadism (IHH) typically present with absent puberty and therefore have prepubertal testes. IHH is recognized as one of the few curable causes of male infertility and is often effectively treated with either gonadotropins or pulsatile GnRH therapy. The objective of this study was to determine the structure of the testis prior to initiation of treatment.
European Journal of Pediatrics, 2012
Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46, XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/ 46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated. Sixty-seven patients were diagnosed with sex chromosome DSD (50 Turner, three Klinefelter, ten 45,X/46,XY gonadal disgenesis, one 45X/46, XY ovotesticular DSD, one 47,XYY ovotesticular DSD, and two 46,XX/46,XY ovotesticular DSD). The type and the percentage of patients with 45,X/46,XY mosaicism were as follows: Four cases of mix gonadal dysgenesis, four cases of partial gonadal dysgenesis, two cases of complete gonadal dysgenesis, one case of ovotesticular DSD. On the other hand, another patient that has 45,X/46,XX mosaicism was diagnosed with MGD with the presence of the streak gonad on the right side and the testis on the other side. Conclusion:W e suggest that sex chromosome DSD categorization can include 45,X/46,XY PGD and 45,X/46,XY CGD. Mixed gonadal dysgenesis may be also placed among the disorders of testicular differentiation of 46,XY DSD subdivision.
2001
Eleven children with dysgenic male pseudohermaphroditism (DMP) and 18 boys with isolated penile hypospadias, all with 46,XY karyotype, were studied. Testicular dysgenesis was associated with significantly lower testosterone response to human chorionic gonadotropin (0.9 Ϯ 0.2 ng/mL) than it was in hypospadias (3.3 Ϯ 0.1 ng/mL), and with significantly higher mean serum folliclestimulating hormone (FSH) levels (8.4 Ϯ 2.3 IU/L vs 1.5 Ϯ 0.3 IU/ L). Gonadoblastoma, a tumor that arises from the sex cords, was found in more than ¼ of patients with DMP, whereas testicular carcinoma in situ (CIS) cells were present in all of these patients. Fortytwo percent to 98% of CIS cells revealed an aneuploid pattern of nuclear DNA, indicating that most of them are neoplastic cells. In patients with hypospadias, CIS was not seen, and no other abnormalities were detected. In children with DMP, the percentage of tubules populated with germ cells was significantly lower than it was in those with hypospadias (48.3% Ϯ 10.6% vs 92.4% Ϯ 4.0%). The total number of germ cells (CIS cells ϩ spermatogonia) did not differ significantly between the 2 groups, but the number of spermatogonia was significantly reduced in children with DMP (0.08 Ϯ 0.05 vs 3.65 Ϯ 0.2), suggesting impaired differentiation of gonocytes to spermatogonia. The following significant correlations were present with DMP: 1) the higher the seminiferous tubule cross-section area, the higher the number of CIS cells (r ϭ 0.78); and 2) the higher the serum gonadotropin levels, the higher were tubular diameter (r ϭ 0.93 for FSH and r ϭ 0.75 for luteinizing hormone [LH]), area (r ϭ 0.79 for FSH and r ϭ 0.82 for LH), percentage of tubules populated with germ cells (r ϭ 0.86 for FSH and r ϭ 0.81 for LH), and number of CIS cells (r ϭ 0.87 for FSH and r ϭ 0.79 for LH). The results indicate that in intersex children with 46,XY karyotype, CIS occurs in dysgenetic testes in all cases and is frequently associated with gonadoblastoma. Impaired organogenesis of sex cords, relative inhibition of testosterone secretion, and the associated increased secretion of gonadotropins may create a milieu that induces or is favorable for the formation or maintenance of neoplastic lesions in dysgenetic testes early in childhood.