Biomaterial Database

Brief historical note: the concept of "gonadal dysgenesis". 1979

J M Opitz, and P D Pallister

The history of gonadal by dysgenesis cautions against overinterpretation of data: The streak gonads are neither the result of dysgenesis nor of embryonic origin but represent late fetal/neonatal degeneration; the X-chromatin-negative character of the buccal smear and the frequency of color vision defects did not indicate male sex in the Ullrich-Turner syndrome but rather an XO constitution; severity of dysgenesis did not correlate with risk of gonadal neoplasia but with genotype; the gonadal lesion in the Ullrich-Turner syndrome was not due to a pituitary defect but a primary ovarian lesion; patients with the Noonan syndrome do not have the Turner phenotype. The concept of gonadal dysgenesis, introduced to Kermauner in 1912, has outlived its usefulness. Improved methods of phenotype analysis, family studies, and endocrine and cytogenetic methods have showen it to be causally and pathogenetically heterogeneous and have contributed to a better identification and delineation of the several different genetic entities which it formerly comprised.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009626	Terminology as Topic	Works about the terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.	Etymology,Nomenclature as Topic,Etymologies
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D010053	Ovary	The reproductive organ (GONADS) in female animals. In vertebrates, the ovary contains two functional parts: the OVARIAN FOLLICLE for the production of female germ cells (OOGENESIS); and the endocrine cells (GRANULOSA CELLS; THECA CELLS; and LUTEAL CELLS) for the production of ESTROGENS and PROGESTERONE.	Ovaries
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D005060	Europe	The continent north of AFRICA, west of ASIA and east of the ATLANTIC OCEAN.	Northern Europe,Southern Europe,Western Europe
D005260	Female		Females
D006059	Gonadal Dysgenesis	A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.	Gonadal Agenesis,Dysgenesis, Gonadal
D006061	Gonadal Dysgenesis, 46,XY	Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.	Swyer Syndrome,46, XY Gonadal Dysgenesis,46, XY Gonadal Sex Reversal,46,XY Complete Gonadal Dysgenesis,Complete Gonadal Dysgenesis, 46, XY,Gonadal Dysgenesis, 46, XY,Pure Gonadal Dysgenesis 46,XY,Pure Gonadal Dysgenesis, 46, XY,Sex Reversal, Gonadal, 46, XY,XY Pure Gonadal Dysgenesis,Syndrome, Swyer
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man