Gonadal Dysgenesis Precision Panel
Gonadal Dygenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome.
Overview
Gonadal Dygenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome. It is usually defined as congenital hypogonadism related to abnormalities of the sex chromosomes. The identification of dysgenetic gonads is crucial because they are potentially prone to developing tumors such as gonadoblastoma. The most notable of these conditions is Turner syndrome, with an array of associated symptoms and complications.
The Igenomix Gonadal Dysgenesis Precision Panel can be used to make a directed and accurate differential diagnosis of inability to carry out a full pregnancy ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
- The Igenomix Gonadal Dysgenesis Precision Panel is indicated for those patients with clinical suspicion or diagnosis with or without the following manifestations:
- Short stature
- Primary amenorrhea
- Streak gonads
- Sexual infantilism
- Ultrasound-karyotype discordance of genotype
- Failure to develop secondary sex characteristics
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for an initial consultation, surgical repair, assisted reproductive technologies (ART), hormone replacement therapy and surveillance for neoplasms.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Understanding the genetics behind gonadal dysgenesis allowing clinicians to better predict the disorder’s phenotypic presentation, improving screening methods and ongoing care of those medical problems.
Genes & Diseases
See all genes and diseases
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
BMP15 | Ovarian Dysgenesis, | X,G | 98.05 | – |
BNC1 | Premature Ovarian Failure, | AD | 97.46 | 3 of 3 |
CBX2 | 46XY Sex Reversal, 46,XY | AR | 100 | 6 of 6 |
DHH | 46,XY Gonadal Dysgenesis, | AR | 99.85 | 21 of 21 |
DHX37 | 46,XY Sex Reversal, | AD,AR | 99.87 | 13 of 13 |
DMRT1 | 46,XY Complete | – | 99.93 | 6 of 7 |
DMRT3 | 46,XY Partial Gonadal | – | 88.67 | 1 of 1 |
ERCC2 | Cerebrooculofacioskeletal | AR | 100 | 102 of 102 |
ERCC3 | Xeroderma Pigmentosum- | AR | 99.98 | 24 of 24 |
FSHR | Ovarian Dysgenesis, | AD,AR | 100 | 41 of 43 |
GATA4 | Testicular Anomalies With | AD | 94.69 | 108 of 130 |
GTF2E2 | Nonphotosensitive | AR | 99.98 | 2 of 2 |
GTF2H5 | Photosensitive | AR | 100 | 8 of 8 |
HSD17B4 | D-Bifunctional Protein | AR | 99.52 | 85 of 85 |
MAP3K1 | 46,XY Sex Reversal, 46,XY | AD | 96.5 | 31 of 32 |
MPLKIP | Nonphotosensitive | AR | 100 | 13 of 13 |
MRPS22 | Combined Oxidative | AR | 100 | 10 of 10 |
NR0B1 | Congenital Adrenal Hypoplasia, | X,XR,G | 99.87 | – |
NR5A1 | 46,XX Sex Reversal, 46,XY | AD | 99.97 | 222 of 224 |
NUP107 | Galloway-Mowat Syndrome, | AR | 99.91 | 15 of 15 |
POLR3H | 46,XX Gonadal |
| 99.96 | 1 of 1 |
PPP1R12A | Genitourinary And/Or/Brain | AD | 99.48 | 1 of 1 |
PPP2R3C | Gonadal Dysgenesis, | AD,AR | 99.85 | 3 of 3 |
PSMC3IP | Ovarian Dysgenesis, | AR | 99.96 | 9 of 9 |
RNF113A | Nonphotosensitive | X,XD,G | 99.7 | – |
RXYLT1 | Walker-Warburg | AR | 99.46 | – |
SOX9 | 46,XX Ovotesticular | AD | 97.28 | 87 of 95 |
SPIDR | 46,XX Gonadal | – | 82 | 1 of 1 |
SRY | 46,XX Sex Reversal, | X,XD,Y,G | 45 | – |
TARS1 | Nonphotosensitive | AR | 99.94 | – |
TOE1 | Pontocerebellar | AR | 99.98 | 12 of 12 |
TWNK | Infantile-Onset | AD,AR | – | – |
VAMP7 | 46,XY Partial Gonadal | – | 99.98 | – |
WT1 | Denys-Drash Syndrome, | AD | 98.92 | 178 of 185 |
WWOX | Early Infantile Epileptic | AR | 99.94 | 44 of 44 |
ZFPM2 | 46,XY Sex Reversal, | AD | 99.4 | 44 of 46 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
References
Lipay, M. V., Bianco, B., & Verreschi, I. T. (2005). Disgenesias gonadais e tumores: aspectos genéticos e clínicos [Gonadal dysgenesis and tumors: genetic and clinical features]. Arquivos brasileiros de endocrinologia e metabologia, 49(1), 60–70. https://doi.org/10.1590/s0004-27302005000100008
Breuil, V., & Euller-Ziegler, L. (2001). Gonadal dysgenesis and bone metabolism. Joint bone spine, 68(1), 26–33. https://doi.org/10.1016/s1297-319x(00)00235-9
XY gonadal dysgenesis. (1979). Lancet (London, England), 1(8106), 27.
Breehl L, Caban O. Genetics, Gonadal Dysgenesis. [Updated 2020 Oct 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK539886/
McDonough, P. G., & Byrd, J. R. (1977). Gonadal dysgenesis. Clinical obstetrics and gynecology, 20(3), 565–579. https://doi.org/10.1097/00003081-197709000-00007
Ferguson-Smith M. A. (1965). Karyotype-Phenotype Correlations In Gonadal Dysgenesis And Their Bearing On The Pathogenesis Of Malformations. Journal of medical genetics, 2(2), 142–155. https://doi.org/10.1136/jmg.2.2.142
