Phenotypic-Karyotypic Correlations of Gonadal Determinants: Current Status and Relationship to Molecular Studies

Simpson, Joe Leigh

doi:10.1007/978-3-642-71635-5_27

Cited by 7 publications

(5 citation statements)

References 55 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A streak gonad is characterized on histologic examination by interlacing waves of dense, fibrous stroma indistinguishable from normal ovarian stroma. Because germ cells are [Simpson, 1987b]. Nonmosaic cases described since that report include Naguib et al [1988], Massa et al [1992], Veneman et al [1991], and Schwartz et al [1987], when is actually a molecular update of Fitch et al [1982], Tharapel et al [1993], Zinn et al [1997], Zinn et al [1998], Ogata and Matsuo [1995], Marozzi et al [1998], Davison et al [1998], James et al [1998], and Susca et al [1999].…”

Section: Monosomy Xmentioning

confidence: 99%

Ovarian differentiation and gonadal failure

Simpson

Rajkovic²

1999

Am. J. Med. Genet.

230

139

View full text Add to dashboard Cite

Ovarian failure can result from several different genetic mechanisms-X chromosomal abnormalities, autosomal recessive genes causing various types of XX gonadal dysgenesis, and autosomal dominant genes. The number and precise location of loci on the X are still under investigation, but it is clear that, in aggregate, these genes are responsible for ovarian maintenance, given that monosomy X shows germ cells that undergo accelerated atresia. Despite recent hypotheses, at present there is no evidence for a gene directing primary ovarian differentiation; this process may be constitutive. Phenotypic/karyotypic correlation and limited molecular confirmation have long shown that proximal Xp and proximal Xq contain regions of the most importance to ovarian maintenance. Terminal deletions at Xp11 result in 50% primary amenorrhea and 50% premature ovarian failure or fertility. Deletions at Xq13 usually produce primary amenorrhea. Terminal deletions nearer the telomeres on either Xp of Xq bring about premature ovarian failure more often than complete ovarian failure. The X-linked zinc finger gene (ZFX) and diaphanous 2 Drosophila homologue (DIAPH2) are the only candidate genes for ovarian maintenance that map to the X chromosome. Additional, as yet unidentified, genes along the X chromosome must be involved. The search for these genes in humans is hampered by the lack of candidate genes that map to the X chromosome, the scarcity of patients with fortuitous autosomal translocations, and small pedigrees, which hinder mapping of the loci. In addition, difficulties with human germ cell research also make it challenging to dissect genes important to ovarian development. Autosomal genes also are involved in ovarian differentiation and gonadal failure. Follicle-stimulating hormone receptor and ataxia telangiectasia are examples of autosomal genes known to cause human ovarian failure. Transgenic mouse models point to many other candidate autosomal genes, and sequencing of the human homologues in affected women should lead to the discovery of new genes responsible for human ovarian failure. Identification, functional analysis, and mapping of novel genes specifically expressed in the ovary of mice and women eventually should lead to fruitful dissection of essential genes in mammalian ovarian development and maintenance.

show abstract

Section: Monosomy Xmentioning

confidence: 99%

Ovarian differentiation and gonadal failure

Simpson

Rajkovic²

1999

Am. J. Med. Genet.

230

139

View full text Add to dashboard Cite

show abstract

“…Indeed, data of Fryns and associates 48 support this idea; fertile cases showed a break point more distal-"(X) (p1106)"-than cases showing secondary amenorrhea-"(X) (p1102)." In contrast, all 3 individuals reported to have telo centric X chromosomes showed secondary and not primary amenorrhea 46 (see Fig. 5).…”

Section: Deletions Of the Short Arm (Xp)mentioning

confidence: 85%

“…More refined characterization is not always possible because published reports rarely permit one to distinguish between break points at Xp11.2, 11.3, or 11.4. Among 24 published del(X) (p11.2 → 11.4 cases, 46 11 (45.8%) had primary amen orrhea; 13 (54.2%) menstruated spontaneously (Fig. 5).…”

Section: Deletions Of the Short Arm (Xp)mentioning

confidence: 99%

“…Duplication of Xq (i.e., 46 Deletions of the Long Arm (Xq) Figure 5 also shows reproductive consequences of long arm deletions. The key observation is that dele tions involving region Xq13 are usually ( 10 / 11 cases) associated with primary amenorrhea (complete ovar ian failure).…”

Section: Isochromosome For the X Long Arm [I(xq]mentioning

confidence: 99%

“…The key observation is that dele tions involving region Xq13 are usually ( 10 / 11 cases) associated with primary amenorrhea (complete ovar ian failure). 46 Little information exists on proximal Xq11, but X/autosome translocations 51 suggest a po tentially less important role for this region.…”

Section: Isochromosome For the X Long Arm [I(xq]mentioning

confidence: 99%

See 2 more Smart Citations