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Genetic changes may alter the structure or function of the reproductive system in males or females. These changes may impair fertility, or the ability to conceive a child.
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Aarskog-Scott syndrome
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Aarskog syndrome see Aarskog-Scott syndrome
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AAS see Aarskog-Scott syndrome
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Absence of vas deferens see congenital bilateral absence of the vas deferens
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absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation see genitopatellar syndrome
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Absent vasa see congenital bilateral absence of the vas deferens
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Acral dysostosis with facial and genital abnormalities see Robinow syndrome
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adrenal hyperplasia, hypertensive form see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
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AIS see androgen insensitivity syndrome
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5-alpha reductase deficiency
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alpha thalassemia X-linked intellectual disability syndrome
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androgen insensitivity syndrome
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anosmic hypogonadism see Kallmann syndrome
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anosmic idiopathic hypogonadotropic hypogonadism see Kallmann syndrome
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Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
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Antley-Bixler syndrome with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
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AR deficiency see androgen insensitivity syndrome
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ATR-X syndrome see alpha thalassemia X-linked intellectual disability syndrome
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ATRX syndrome see alpha thalassemia X-linked intellectual disability syndrome
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autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
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Bardet-Biedl syndrome
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BBS see Bardet-Biedl syndrome
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3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
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3-beta-hydroxysteroid dehydrogenase deficiency
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3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
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11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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17-beta hydroxysteroid dehydrogenase 3 deficiency
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Biason-Lauber syndrome see WNT4 Müllerian aplasia and ovarian dysfunction
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blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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blepharophimosis, ptosis, and epicanthus inversus syndrome
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Bloom syndrome
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BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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BPES see blepharophimosis, ptosis, and epicanthus inversus syndrome
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CAH1 see 21-hydroxylase deficiency
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Cancer Family Syndrome see Lynch syndrome
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cardio-cutaneous syndrome see multiple lentigines syndrome
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CATSPER-related nonsyndromic male infertility see CATSPER1-related nonsyndromic male infertility
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CATSPER1-related nonsyndromic male infertility
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caudal regression syndrome
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CAVD see congenital bilateral absence of the vas deferens
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CBAVD see congenital bilateral absence of the vas deferens
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CF see cystic fibrosis
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CHARGE syndrome
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chromosome 15q15.3 deletion syndrome see sensorineural deafness and male infertility
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COCA 1 see Lynch syndrome
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combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
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congenital absence of the uterus and vagina (CAUV) see Mayer-Rokitansky-Küster-Hauser syndrome
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congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
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congenital bilateral absence of the vas deferens
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congenital telangiectatic erythema see Bloom syndrome
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CYP21 deficiency see 21-hydroxylase deficiency
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cystic fibrosis
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cytochrome P450 oxidoreductase deficiency
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deafness-infertility syndrome see sensorineural deafness and male infertility
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7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
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11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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15q24 deletion see 15q24 microdeletion
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22q11.2 deletion syndrome see Opitz G/BBB syndrome
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DHTR deficiency see androgen insensitivity syndrome
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diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
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diffuse lentiginosis see multiple lentigines syndrome
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Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
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DIS see sensorineural deafness and male infertility
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Facio-digito-genital dysplasia see Aarskog-Scott syndrome
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Facio-genito-popliteal syndrome see popliteal pterygium syndrome
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Faciogenital dysplasia see Aarskog-Scott syndrome
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Familial incomplete male pseudohermaphroditism, type 2 see 5-alpha reductase deficiency
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Familial nonpolyposis colon cancer see Lynch syndrome
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Fetal face syndrome see Robinow syndrome
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fibrocystic disease of pancreas see cystic fibrosis
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FMR1-related primary ovarian insufficiency see fragile X-associated primary ovarian insufficiency
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fragile X-associated primary ovarian insufficiency
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Fryns syndrome
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FXPOI see fragile X-associated primary ovarian insufficiency
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Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
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GDXY see Swyer syndrome
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genital renal ear syndrome (GRES) see Mayer-Rokitansky-Küster-Hauser syndrome
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genitopatellar syndrome
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Gonadal Dysgenesis, 46,XY see Swyer syndrome
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GONADAL DYSGENESIS, XY FEMALE TYPE see Swyer syndrome
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GPS see genitopatellar syndrome
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Hall-Hittner syndrome see CHARGE syndrome
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hand-foot-genital syndrome
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Hand-foot-uterus syndrome see hand-foot-genital syndrome
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hereditary leiomyomatosis and renal cell cancer
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Hereditary nonpolyposis colorectal cancer see Lynch syndrome
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Hereditary Nonpolyposis Colorectal Neoplasms see Lynch syndrome
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hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
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HFG syndrome see hand-foot-genital syndrome
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HFGS see hand-foot-genital syndrome
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HFU syndrome see hand-foot-genital syndrome
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Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
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HLRCC see hereditary leiomyomatosis and renal cell cancer
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HMCS see McKusick-Kaufman syndrome
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HNPCC see Lynch syndrome
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Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation see McKusick-Kaufman syndrome
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11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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21-hydroxylase deficiency
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3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
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Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
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hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
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hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
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hypogonadotropic hypogonadism and anosmia see Kallmann syndrome
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hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome
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immotile cilia syndrome see primary ciliary dyskinesia
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interstitial deletion of chromosome 15q24 see 15q24 microdeletion
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Kallmann syndrome
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Kaufman-McKusick syndrome see McKusick-Kaufman syndrome
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17-ketosteroid reductase deficiency of testis see 17-beta hydroxysteroid dehydrogenase 3 deficiency
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Klinefelter syndrome
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17-KSR deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
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Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
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Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
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Laurence-Moon syndrome see Bardet-Biedl syndrome
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LCH see Leydig cell hypoplasia
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leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
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lentiginosis profusa see multiple lentigines syndrome
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LEOPARD syndrome see multiple lentigines syndrome
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Leydig cell hypoplasia
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LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
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LMBBS see Bardet-Biedl syndrome
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LMS see Bardet-Biedl syndrome
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LRCC see hereditary leiomyomatosis and renal cell cancer
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Lynch syndrome
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male hypergonadotropic hypogonadism due to LHCGR defect see Leydig cell hypoplasia
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male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency
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Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
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Marinesco-Sjögren syndrome
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Mayer-Rokitansky-Küster-Hauser-like syndrome see WNT4 Müllerian aplasia and ovarian dysfunction
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Mayer-Rokitansky-Küster-Hauser syndrome
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McKusick-Kaufman syndrome
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MCL see hereditary leiomyomatosis and renal cell cancer
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MCUL see hereditary leiomyomatosis and renal cell cancer
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mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
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Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
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15q24 microdeletion
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MKS see McKusick-Kaufman syndrome
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monosomy X see Turner syndrome
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Mowat-Wilson syndrome
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Moynahan syndrome see multiple lentigines syndrome
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MRKH syndrome see Mayer-Rokitansky-Küster-Hauser syndrome
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MSS see Marinesco-Sjögren syndrome
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mucoviscidosis see cystic fibrosis
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Mullerian aplasia see Mayer-Rokitansky-Küster-Hauser syndrome
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Mullerian aplasia and hyperandrogenism see WNT4 Müllerian aplasia and ovarian dysfunction
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Müllerian duct failure see WNT4 Müllerian aplasia and ovarian dysfunction
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Mullerian dysgenesis see Mayer-Rokitansky-Küster-Hauser syndrome
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multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
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multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
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multiple lentigines syndrome
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MWS see Mowat-Wilson syndrome
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neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
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Noonan syndrome with multiple lentigines see multiple lentigines syndrome
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Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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Opitz G/BBB syndrome
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P450C11B1 deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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PCD see primary ciliary dyskinesia
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persistent Müllerian duct syndrome
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PMDS see persistent Müllerian duct syndrome
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popliteal pterygium syndrome
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POR Deficiency see cytochrome P450 oxidoreductase deficiency
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PORD see cytochrome P450 oxidoreductase deficiency
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PPS see popliteal pterygium syndrome
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PPSH see 5-alpha reductase deficiency
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premature ovarian failure 1 see fragile X-associated primary ovarian insufficiency
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primary ciliary dyskinesia
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progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
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pseudohermaphroditism, male, with gynecomastia see 17-beta hydroxysteroid dehydrogenase 3 deficiency
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Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency
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Pure gonadal dysgenesis 46,XY see Swyer syndrome
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Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
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Robinow syndrome
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RSH Syndrome see Smith-Lemli-Opitz syndrome
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sacral agenesis see caudal regression syndrome
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sacral defect with anterior meningocele see caudal regression syndrome
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Say-Barber-Biesecker-Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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SBBYS variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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SBBYSS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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sensorineural deafness and male infertility
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SLO syndrome see Smith-Lemli-Opitz syndrome
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SLOS see Smith-Lemli-Opitz syndrome
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Smith-Lemli-Opitz syndrome
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Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
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steroid 11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
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Swyer syndrome
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Testicular feminization see androgen insensitivity syndrome
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TS see Turner syndrome
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Turner syndrome
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type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
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Ullrich-Turner syndrome see Turner syndrome
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WAGR complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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WAGR contiguous gene syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
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WNT4 Müllerian aplasia and ovarian dysfunction
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45,X see Turner syndrome
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X-linked adrenal hypoplasia congenita
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X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked intellectual disability syndrome
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X-linked hypergonadotropic ovarian failure see fragile X-associated primary ovarian insufficiency
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X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
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XLMR-hypotonic face syndrome see alpha thalassemia X-linked intellectual disability syndrome
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46,XX testicular disorder of sex development
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XX male syndrome see 46,XX testicular disorder of sex development
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XX sex reversal see 46,XX testicular disorder of sex development
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47,XXY see Klinefelter syndrome
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XXY syndrome see Klinefelter syndrome
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XXY trisomy see Klinefelter syndrome
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48,XXYY syndrome
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XXYY syndrome see 48,XXYY syndrome
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46,XY CGD see Swyer syndrome
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46,XY complete gonadal dysgenesis see Swyer syndrome
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46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
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XY pure gonadal dysgenesis see Swyer syndrome
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Y chromosome infertility
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Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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