Genomics Precision Diagnostic > Reproductive > Premature Ovarian Insufficiency Precision Panel

Premature Ovarian Insufficiency Precision Panel

Premature Ovarian Insufficiency (POI) also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause.It is a loss of ovarian function before the age of 40 and it is a major cause of female infertility. There is an array of etiologies, including genetic, autoimmune and iatrogenic causes.

Overview

Premature Ovarian Insufficiency (POI) also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause.It is a loss of ovarian function before the age of 40 and it is a major cause of female infertility. There is an array of etiologies, including genetic, autoimmune and iatrogenic causes. It is a highly heterogeneous condition presenting with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea and it can be associated with other congenital or acquired abnormalities. Since the age of menopause is an inheritable trait, POI has a strong genetic component worth investigating. POI is considered primary when the ovary fails to function normally and secondary if the hypothalamus and pituitary fail to provide appropriate gonadotropin stimulation. POI not only interferes with a woman’s reproductive potential, but it is also associated with an increased risk of osteoporosis, cardiovascular disease and earlier mortality.
The Igenomix Premature Ovarian InsufficiencyPrecision Panel can be used to make a directed and accurate differential diagnosis of infertility ultimately leading to a better management of the patient 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 Premature Ovarian Insufficiency Precision Panel is indicated for those patients with clinical suspicion or diagnosis with or without the following manifestations:

Signs of Turner syndrome: short stature, webbed neck, shieldlike chest etc
Thyroid involvement: goiter, exophthalmos, bradycardia or tachycardia
Adrenal insufficiency: orthostatic hypotension, hyperpigmentation, hypotension, decreased axillary and pubic hair 
Autoimmunity: vitiligo, nail dystrophy, mucocutaneous candidiasis, alopecia areata etc
Hypoestrogenism: atrophic vaginitis, hot flashes, night sweats, vaginal dryness, irritability, decreased sexual desire
Enlarged ovaries

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, workup and assisted reproductive technologies (ART), replacement hormonal therapy (RHT), and prevention of complications associated with multiorgan involvement
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

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Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*AARS2*	Combined Oxidative Phosphorylation Deficiency, Leukoencephalopathy, Progressive, With Ovarian Failure	AR	100	54 of 54
*AIRE*	Autoimmune Polyendocrinopathy Syndrome Type I	AD,AR	100	135 of 135
*ANAPC1*	Rothmund-Thomson SyndromeType 1	AR	86.31	3 of 4
*B4GALNT1*	AutosomalRecessive- SpasticParaplegia	AR	98.69	13 of 13
*BLM*	Bloom Syndrome	AR	97.19	133 of 141
*BMP15*	OvarianDysgenesis, 46,XX Gonadal Dysgenesis	X,G	98.05	–
*BNC1*	Premature Ovarian Failure, 46,XX Gonadal Dysgenesis	AD	97.46	3 of 3
*CASP10*	Autoimmune- Lymphoproliferative- Syndrome	AD	99.86	6 of 6
*CDH23*	Pituitary Adenoma, Usher Syndrome, Cushing Disease	AD,AR	98	400 of 403
*CEP164*	Nephronophthisis, Senior-LokenSyndrome	AR	99.98	10 of 10
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome, Senior-Loken Syndrome	AR	96.47	293 of 327
*CLPP*	Perrault Syndrome	AR	99.91	11 of 11
*CYP17A1*	Congenital Adrenal Hyperplasia, 46,XY Disorder Of Sex Development Due To Isolated 17,20- Lyase Deficiency	AR	100	127 of 127
*CYP19A1*	AromataseDeficiency , AromataseExcess Syndrome	AD,AR	100	33 of 35
*DCAF17*	Woodhouse- SakatiSyndrome	AR	98.77	21 of 21
*DIAPH2*	PrematureOvarian Failure	X,XD,G	98.66	–
*EIF2B1*	Leukoencephalopathy With Vanishing White Matter	AR	100	9 of 9
*EIF2B2*	Leukoencephalopathy With Vanishing White Matter	AR	100	30 of 30
*EIF2B3*	Leukoencephalopathy With Vanishing White Matter	AR	97.55	26 of 26
*EIF2B4*	Leukoencephalopathy With Vanishing White Matter	AR	100	31 of 31
*EIF2B5*	Leukoencephalopathy With Vanishing White Matter	AR	100	99 of 99
*ERAL1*	Perrault Syndrome	AR	99.88	1 of 1
*ERCC6*	Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome, De Sanctis- Cacchione Syndrome, Premature Ovarian Failure	AD,AR	99.98	127 of 128
*FANCM*	Premature OvarianFailure	AR	99.73	59 of 61
*FAS*	Autoimmune Lymphoproliferative Syndrome, Vogt-Koyanagi- Harada Disease	AD	100	135 of 135
*FASLG*	Autoimmune Lymphoproliferative Syndrome	AD	99.98	8 of 9
*FIGLA*	Premature Ovarian Failure	AD	98.47	4 of 5
*FMR1*	Fragile X Mental Retardation Syndrome, Premature Ovarian Failure, Xq27.3q28 Duplication Syndrome	X,XD,G	99.8	–
*FOXL2*	Premature Ovarian Failure	AD	89.36	136 of 201
*FSHB*	Hypogonadotropic Hypogonadism Without Anosmia, Isolated Follicle Stimulating Hormone Deficiency	AR	100	8 of 8
*FSHR*	OvarianDysgenesis, 46,XX Gonadal Dysgenesis	AD,AR	100	41 of 43
*GALT*	Classic Galactosemia	AR	100	350 of 350
*GDF9*	Premature Ovarian Failure	AR	100	13 of 13
*GNAS*	ACTH-Independent Macronodular Adrenal Hyperplasia, McCune- Albright Syndrome	AD	99.95	263 of 273
*GNRHR*	Hypogonadotropic HypogonadismWithout Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100	59 of 59
*HFM1*	Premature Ovarian Failure	AR	99.17	10 of 10
*INVS*	Senior-Loken Syndrome	AR	99.9	38 of 38
*IQCB1*	Senior-Loken Syndrome	AR	99.98	43 of 43
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia , Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.41	42 of 43
*LARS2*	Perrault Syndrome	AR	99.99	20 of 20
*LHB*	Hypogonadotropic HypogonadismWithout Anosmia	AR	100	11 of 11
*LHCGR*	Hypergonadotropic Hypogonadism	AD,AR	100	75 of 75
*LMNA*	Dilated Cardiomyopathy- Hypergonadotropic Hypogonadism Syndrome	AD,AR	100	619 of 620
*MCM3AP*	Autosomal Recessive Peripheral Neuropathy With Or Without Impaired Intellectual Development	AR	99.96	22 of 22
*MCM8*	Premature Ovarian Failure	AR	99.94	10 of 10
*MCM9*	OvarianDysgenesis	AR	99.93	12 of 12
*MRPS22*	Combined Oxidative Phosphorylation Deficiency, Ovarian Dysgenesis, 46,XX Gonadal Dysgenesis	AR	100	10 of 10
*MSH5*	Premature OvarianFailure	AR	100	4 of 4
*NBN*	Nijmegen Breakage Syndrome, Hereditary Breast And Ovarian Cancer Syndrome	AR,MU,P	100	200 of 200
*NOBOX*	Premature Ovarian Failure	AD	90.55	14 of 17
*NPHP1*	Joubert Syndrome, Senior-Loken Syndrome, Bardet-Biedl Syndrome	AR	100	58 of 59
*NPHP3*	Meckel Syndrome, Senior-Loken Syndrome	AR	99.99	84 of 84
*NPHP4*	Senior-Loken Syndrome	AR	99.96	118 of 119
*NR5A1*	46,XX Sex Reversal, 46,XY Sex Reversal, Premature Ovarian Failure, 46,XX Gonadal Dysgenesis	AD	99.97	222 of 224
*NUP107*	Galloway-Mowat Syndrome , Ovarian Dysgenesis, 46,XX Gonadal Dysgenesis	AR	99.91	15 of 15
*PMM2*	CongenitalDisorder Of Glycosylation	AR	100	127 of 129
*POF1B*	PrematureOvarian Failure	X,XR,G	99.54	–
*POLG*	Mitochondrial DNA DepletionSyndrome	AD,AR	99.92	325 of 326
*POLR3H*	46,XX Gonadal Dysgenesis	–	99.96	1 of 1
*POR*	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	AD,AR	99.98	67 of 68
*PRKCD*	Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PSMC3IP*	OvarianDysgenesis, 46,XX Gonadal Dysgenesis	AR	99.96	9 of 9
*RASGRP1*	Autoimmune Lymphoproliferative Syndrome	AR	98.41	8 of 9
*RCBTB1*	Retinal Dystrophy With Or Without Extraocular Anomalies	AR	99.94	10 of 10
*RIN2*	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis, Rin2 Syndrome	AR	99.6	4 of 4
*SDCCAG8*	Bardet-Biedl Syndrome, Senior-Loken Syndrome	AR	96.29	18 of 19
*SOHLH1*	Ovarian Dysgenesis	AD,AR	100	9 of 10
*SPIDR*	46,XX Gonadal Dysgenesis	–	82	1 of 1
*STAG3*	Premature Ovarian Failure	AR	98.88	16 of 16
*STAR*	LipoidCongenital Adrenal Hyperplasia, FamilialGlucocorticoid Deficiency	AR	100	80 of 80
*SYCE1*	Premature OvarianFailure	AR	100	2 of 3
*THOC6*	Microcephaly, Mental Retardation, And Distinctive Facies, With Cardiacand Genitourinary Malformations	AR	100	13 of 13
*TRAF3IP1*	Senior-Loken Syndrome	AR	97.54	15 of 15
*TTI2*	Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	AR	100	6 of 6
*TWNK*	Perrault Syndrome, ProgressiveExternal Ophthalmoplegia With Mitochondrial DNA Deletions	AD,AR	–	–
*USP8*	ACTH-Secreting Pituitary Adenoma, Cushing Disease	AD,AR	98.19	3 of 3
*WDR19*	Senior-Loken Syndrome, Jeune Syndrome	AR	99.96	47 of 49
*WT1*	Denys-Drash Syndrome, FrasierSyndrome, 46,XY Complete Gonadal Dysgenesis , 46,XY Partial Gonadal Dysgenesis, Denys-DrashSyndrome, WagrSyndrome	AD	98.92	178 of 185

*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. 

**Number of clinically relevant mutations according to HGMD.

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Premature Ovarian Insufficiency Precision Panel

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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