Genomics Precision Diagnostic > Prenatal > Disorders of Sex Development Precision Panel

Panel de precisión de trastornos del desarrollo sexual

Los trastornos del desarrollo sexual (DSD), anteriormente denominados afecciones intersexuales, ocurren cuando existe una discrepancia entre la apariencia de los genitales y la composición genética de un individuo. Estos trastornos pueden presentarse desde el nacimiento hasta la adolescencia.

Descripción general

Indicación

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

Los trastornos del desarrollo sexual (DSD), anteriormente denominados afecciones intersexuales, ocurren cuando existe una discrepancia entre la apariencia de los genitales y la composición genética de un individuo. Estos trastornos pueden presentarse desde el nacimiento hasta la adolescencia. El DSD puede ser leve o significativo según la apariencia de los genitales y los síntomas asociados. El DSD puede ser causado por cambios a nivel cromosómico y genético, por lo que el patrón de herencia de los DSD puede ser dominante, recesivo o ligado al sexo. Además, los DSD pueden ocurrir debido a cambios de novo en el ADN (por primera vez en el individuo afectado).
El panel de precisión de trastornos del desarrollo sexual de Igenomix se puede utilizar para realizar un diagnóstico diferencial directo y preciso de genitales ambiguos que, en última instancia, conduzcan a un mejor tratamiento y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.

Indicaciones

El panel de precisión de trastornos del desarrollo sexual de Igenomix está indicado para aquellos pacientes con sospecha clínica de una condición intersexual que presenten las siguientes manifestaciones:
- Historia familiar de ambigüedad genital
- Historia de muerte prematura de bebés.
- Ingestión materna de drogas
- Genitales ambiguos
- Tamaño anormal y grado de diferenciación del falo.
- Posición anormal del meato uretral
- Pliegues labioescrotales separados
- Pliegues labioescrotales con pigmentación aumentada

Utilidad clínica

La utilidad clínica de este panel es:

La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
Inicio precoz del tratamiento con un equipo multidisciplinar de reconstrucción quirúrgica precoz, ayudas psicosociales y tratamiento farmacológico.
Evaluación de riesgo de familiares asintomáticos según el modo de herencia.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*AKR1C2*	46,XY Sex Reversal 8	AR	91.52%	5 of 7
*AKR1C3*	Prostate Cancer, Endometrial Cancer, Breast Cancer, Skin Squamous Cell Carcinoma	–	96.97%	2 of 2
*AMH*	Persistent Mullerian Duct Syndrome Types 1 and 2	AR	98.17%	76 of 96
*AMHR2*	Persistent Mullerian Duct Syndrome Types 1 and 2	AR	100%	87 of 95
*ANOS1*	Hypogonadotropic Hypogonadism 1 With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism,	X,XR,G	96.86%	NA of NA
AR	Androgen Insensitivity Syndrome, X-linked Hypospadias, Kennedy Disease, Partial Androgen Insensitivity Syndrome, Prostate Cancer, Reifenstein Syndrome, X-linked Spinal And Bulbar Muscular Atrophy	AD,X,XR,G	97.96%	NA of NA
*ARX*	Corpus Callosum Agenesis-Abnormal Genitalia Syndrome, Early Infantile Epileptic Encephalopathy, X-linked Lissencephaly With Abnormal Genitalia, X-linked Mental Retardation, Partington Syndrome, West Syndrome, X-linked Non-Syndromic Intellectual Disability, X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome	X,XR,G	81.92%	NA of NA
*ATRX*	Alpha-Thalassemia Myelodysplasia Syndrome, Carpenter-Waziri Syndrome, Chudley-Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, X-Linked Mental Retardation-Hypotonic Facies Syndrome, Neuroendocrine Tumor Of Stomach, Smith-Fineman-Myers Syndrome	X,XR,XD,G	98.50%	NA of NA
*BCOR*	Acute Promyelocytic Leukemia Lenz Type Microphthalmia, Oculofaciocardiodental Syndrome	X,XD,G	99.87%	NA of NA
*CBX2*	46,XY Complete Gonadal Dysgenesis,46XY Sex Reversal	AR	100%	6 of 6
*CDK9*	Primary Immunodeficiency, Multiple Myeloma, NUT Midline Carcinoma		82.69%	2 of 2
*CDKN1C*	Beckwith-Wiedemann Syndrome, IMAGE Syndrome, Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	AD	73.58%	55 of 76
*CEP41*	Joubert Syndrome	AR	100%	17 of 17
*CHD7*	CHARGE Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Omenn Syndrome	AD	96.25%	823 of 896
*CITED4*	Adult Oligodendroglioma, Breast Cancer		65.14%	NA of NA
*CREBBP*	Menke-Hennekam Syndrome, Rubinstein-Taybi Syndrome	AD	100%	318 of 318
*CYB5A*	46,XY Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency, Hereditary Methemoglobinemia And Ambiguous Genitalia	AR	100%	5 of 5
*CYP11A1*	46,XY Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency		100%	39 of 39
*CYP11B1*	Congenital Adrenal Hyperplasia Due To Steroid 11-Beta-Hydroxylase Deficiency, Familial Hyperaldosteronism Type I, Glucocorticoid-Remediable Aldosteronism	AD,AR	100%	144 of 144
*CYP17A1*	46,XY Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency, Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	AR	100%	127 of 127
*CYP19A1*	Aromatase Deficiency, Aromatase Excess Syndrome	AD,AR	100%	33 of 35
*CYP21A2*	Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	AR	99.98%	278 of 280
*DHCR7*	Smith-Lemli–Opitz Syndrome	AR	100%	217 of 217
*DHH*	46,XY Complete Gonadal Dysgenesis	AR	99.85%	21 of 21
*DYNC2H1*	Jeune Syndrome, Short Rib-Polydactyly Syndrome, X,Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR,MU,D	99.78%	214 of 221
*EMX2*	Schizencephaly		100%	5 of 5
*ERCC3*	Trichothiodystrophy, Xeroderma Pigmentosum-Cockayne Syndrome Complex	AR	99.98%	24 of 24
*FEZF1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AR	99.95%	3 of 3
*FGF8*	Alobar Holoprosencephaly, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	98.36%	38 of 38
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Isolated Trigonocephaly, Jackson-Weiss Syndrome, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Septo-Optic Dysplasia Spectrum, Nonsyndromic Trigonocephaly	AD	100%	279 of 280
*FIG4*	Amyotrophic Lateral Sclerosis, Bilateral Parasagittal Parieto-Occipital Polymicrogyria, Charcot-Marie-Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs And Distal, Polymicrogyria, Bilateral Temporooccipital, Yunis-Varon Syndrome	AD,AR	99.92%	72 of 72
*FOXL2*	Blepharophimosis, Ptosis, And Epicanthus Inversus, Premature Ovarian Failure	AD	89.36%	136 of 201
*FRAS1*	Fraser Syndrome	AR	98.73%	57 of 58
*GNRH1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	12 of 12
*GNRHR*	Hypogonadotropic Hypogonadism Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	59 of 59
*HSD17B3*	46,XY Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase Deficiency, Male Pseudohermaphroditism With Gynecomastia	AR	100%	61 of 61
*HSD3B2*	Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	AR	100%	70 of 70
*IL17RD*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.95%	17 of 17
*IRF6*	Autosomal Dominant Popliteal Pterygium Syndrome, Cleft Lip And Alveolus, Cleft Lip/Palate, Isolated Cleft Lip, Oligodontia, Orofacial Cleft, Van Der Woude Syndrome	AD,MU,P	99.98%	325 of 335
*KISS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	9 of 10
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Central Precocious Puberty	AD,AR	99.41%	42 of 43
*LHB*	Hypogonadotropic Hypogonadism Without Anosmia	AR	100%	11 of 11
*LHCGR*	Familial Male-Limited Precocious Puberty, Hypergonadotropic Hypogonadism, Precocious Puberty, Male-limited	AD,AR	100%	75 of 75
*LHX9*	Gonadal Agenesis, 46 XY Sex Reversal		99.65%	1 of 1
*MAMLD1*	X-linked Hypospadias, X-linked Myotubular Myopathy-Abnormal Genitalia Syndrome	X,XR,G	99.87%	NA of NA
*MAP3K1*	46,XY Complete Gonadal Dysgenesis, 46 XY Partial Gonadal Dysgenesis, 46 XY Sex Reversal	AD	96.50%	31 of 32
*MKRN3*	Prader-Willi Syndrome, Central Precocious Puberty	AD,ADWMI	99.98%	39 of 41
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98%	49 of 49
*NR0B1*	46,XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Congenital Adrenal Hypoplasia, Dosage-Sensitive Sex Reversal	X,XR,G	99.87%	NA of NA
*NR5A1*	46,XX Gonadal Dysgenesis, 46 XX Ovotesticular Disorder Of Sex Development,46 XX Sex Reversal, 46 XX Testicular Disorder Of Sex Development, 46 XY Complete Gonadal Dysgenesis, 46 XY Partial Gonadal Dysgenesis, 46 XY Sex Reversal, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure	AD	99.97%	222 of 224
*POR*	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis, Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency, Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase	AD,AR	99.98%	67 of 68
*PROK2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	100%	20 of 20
*PROKR2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD	100%	64 of 64
*RSPO1*	Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin, 46 XX Sex Reversal, Palmoplantar Keratoderma	AR	100%	6 of 7
*SAMD9*	Mirage Syndrome, Familial Normophosphatemic Tumoral Calcinosis	AD,AR	99.72%	45 of 46
*SGPL1*	Nephrotic Syndrome	AR	98.96%	18 of 18
*SOX10*	Kallmann Syndrome, Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome, Hirschsprung Disease, Peripheral Demyelinating Neuropathy, Central Dysmyelination	AD	99.74%	139 of 147
*SOX13*	Metastatic Cancer Disease		100%	1 of 1
*SOX3*	46, XX Testicular Disorder Of Sex Development, X-linked Mental Retardation With Isolated Growth Hormone Deficiency, Non-Acquired Panhypopituitarism, X-linked Panhypopituitarism, Septo-Optic Dysplasia Spectrum	X,G	92.88%	NA of NA
*SOX9*	46,XX Ovotesticular Disorder Of Sex Development, 46 XX Testicular Disorder Of Sex Development, 46 XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Campomelic Dysplasia, Isolated Pierre Robin Syndrome	AD	97.28%	87 of 95
*SRD5A2*	46,XY Disorder Of Sex Development Due To 5-Alpha-Reductase Deficiency, Pseudovaginal Perineoscrotal Hypospadias	AR	na	na
*SRY*	45X/46 XY Mixed Gonadal Dysgenesis, 46 XX Ovotesticular Disorder Of Sex Development, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, 46XX ÇSex Reversal, 46XY Sex Reversal	X,XD,Y,G	45%	NA of NA
*STAR*	Familial Glucocorticoid Deficiency, Lipoid Congenital Adrenal Hyperplasia	AR	100%	80 of 80
*TAC3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100%	10 of 10
*TACR3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	99.97%	40 of 40
*TOE1*	Pontocerebellar Hypoplasia	AR	99.98%	12 of 12
*TSPYL1*	Sudden Infant Death With Dysgenesis Of The Testes Syndrome	AR	99.92%	8 of 8
*WDR11*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome	AD,AR	100%	19 of 19
*WT1*	46 XY Complete Gonadal Dysgenesis, 46 XY Partial Gonadal Dysgenesis, Aniridia, Denys-Drash Syndrome, Desmoplastic Small Round Cell Tumor, Frasier Syndrome, Meacham Syndrome, Mesothelioma, Malignant, Nephroblastoma, Nephrotic Syndrome, WAGR Syndrome, Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome Chromosome 11p13 Deletion Syndrome	AD	98.92%	178 of 185
*ZFPM2*	46 XY Partial Gonadal Dysgenesis, 46 XY Sex Reversal, Congenital Diaphragmatic Hernia, Tetralogy Of Fallot	AD	99.40%	44 of 46

* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica

** HGMD: número de mutaciones clínicamente relevantes según HGMD

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