46,XX Gonadal Dysgenesis

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.

Also Known As:

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	46,XY Gonadal Dysgenesis (Swyer Syndrome)
2.	Turner Syndrome (Turner's Syndrome)
3.	46,XY Disorder of Sex Development (Male Pseudohermaphroditism)
4.	Androgen-Insensitivity Syndrome (Testicular Feminization)
5.	Klinefelter Syndrome (Klinefelter's Syndrome)

Experts

1.	Himathongkam, Thep: 1 article (12/2019)
2.	Krittiyawong, Sirinate: 1 article (12/2019)
3.	Nakasatien, Soontaree: 1 article (12/2019)
4.	Thewjitcharoen, Yotsapon: 1 article (12/2019)
5.	Veerasomboonsin, Veekij: 1 article (12/2019)
6.	Bouvattier, Claire: 1 article (08/2017)
7.	Claahsen-van der Grinten, Hedi: 1 article (08/2017)
8.	Cohen-Kettenis, Peggy: 1 article (08/2017)
9.	Gehrmann, Katharina: 1 article (08/2017)
10.	Köhler, Birgit: 1 article (08/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 46,XX Gonadal Dysgenesis:

1.	Prostaglandins DIBA 12/01/2016 - "The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. " 05/01/1995 - "Patients were divided into five groups according to their chromosome pattern, as follows: group A = 45, X karyotype (34 patients); group B = mosaicism (11 with karyotype 45,X/46,XX and 7 with karyotype 45,X/46,XY); group C = deletion of all or part of Xp (19 patients); subgroup C1 = 6 with complete deletion of Xp; subgroup C2 = 9 with mosaicism 45,X/46,X,i(Xq); subgroup C3 = 4 with 45,X/46,X,ring(X); group D = deletion of Xq (4 patients); pure gonadal dysgenesis (PGD) group = 9 patients with pure 46,XX gonadal dysgenesis. "
2.	AndrogensIBA 08/18/2017 - "The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). " 06/01/2003 - "During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. "
3.	Untranslated Regions (Untranslated Region)IBA 01/15/2001 - "Other possibilities for the presence of 46,XX gonadal dysgenesis, such as defects in the regulatory regions of the FSHR gene promoter, in the untranslated regions of exons 1 and 10, and within introns, or the existence of other genes likely to be important for normal ovarian function on the X chromosome or on autosomes, should be considered. "
4.	GonadotropinsIBA 06/01/2003 - "During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. "
5.	Estrogens (Estrogen)FDA Link 08/01/2000 - "The results, in conjunction with the adult height data in 47,XXX, 46,XX gonadal dysgenesis, 47,XXY, 46,XY gonadal dysgenesis, and 46,X, idic(Xq-), suggest that the tall stature of this female is caused by the combined effects of SHOX duplication on the der(X) chromosome and gonadal estrogen deficiency. "
6.	EnzymesIBA 06/01/2003 - "During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. "

Therapies and Procedures

1.	Estrogen Replacement Therapy 12/06/2019 - "The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6-12 months. "