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	Genetic Conditions: Fertility 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. - A - Aarskog-Scott syndrome Aarskog syndrome see Aarskog-Scott syndrome AAS see Aarskog-Scott syndrome Absence of vas deferens see Congenital bilateral absence of the vas deferens Absent vasa see Congenital bilateral absence of the vas deferens Acral dysostosis with facial and genital abnormalities see Robinow syndrome Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita AIS see Androgen insensitivity syndrome 5-alpha reductase deficiency Alpha thalassemia X-linked mental retardation syndrome Androgen insensitivity syndrome Anosmic hypogonadism see Kallmann syndrome Anosmic idiopathic hypogonadotropic hypogonadism see Kallmann syndrome Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see Cytochrome P450 oxidoreductase deficiency Antley-Bixler syndrome with disordered steroidogenesis see Cytochrome P450 oxidoreductase deficiency AR deficiency see Androgen insensitivity syndrome ATR-X syndrome see Alpha thalassemia X-linked mental retardation syndrome ATRX syndrome see Alpha thalassemia X-linked mental retardation syndrome Autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome - B - 3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency 3-beta-hydroxysteroid dehydrogenase deficiency 3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency Biason-Lauber syndrome see WNT4 Müllerian aplasia and ovarian dysfunction Blepharophimosis, ptosis, and epicanthus inversus syndrome Bloom syndrome BPES see Blepharophimosis, ptosis, and epicanthus inversus syndrome - C - CAH1 see 21-hydroxylase deficiency Cancer Family Syndrome see Lynch syndrome CAVD see Congenital bilateral absence of the vas deferens CBAVD see Congenital bilateral absence of the vas deferens CF see Cystic fibrosis CHARGE syndrome COCA 1 see Lynch syndrome Combined partial deficiency of 17-hydroxylase and 21-hydroxylase see Cytochrome P450 oxidoreductase deficiency Congenital bilateral absence of the vas deferens CYP21 deficiency see 21-hydroxylase deficiency Cystic fibrosis Cytochrome P450 oxidoreductase deficiency - D - 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome 11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 22q11.2 deletion syndrome see Opitz G/BBB syndrome DHTR deficiency see Androgen insensitivity syndrome Dihydrotestosterone receptor deficiency see Androgen insensitivity syndrome - E - - F - Facio-digito-genital dysplasia see Aarskog-Scott syndrome Facio-genito-popliteal syndrome see Popliteal pterygium syndrome Faciogenital dysplasia see Aarskog-Scott syndrome Familial incomplete male pseudohermaphroditism, type 2 see 5-alpha reductase deficiency Familial nonpolyposis colon cancer see Lynch syndrome Fetal face syndrome see Robinow syndrome Fibrocystic disease of pancreas see Cystic fibrosis - G - Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome GDXY see Swyer syndrome Gonadal dysgenesis, 46,XY see Swyer syndrome Gonadal dysgenesis, XY female type see Swyer syndrome - H - Hall-Hittner syndrome see CHARGE syndrome Hand-foot-genital syndrome Hand-foot-uterus syndrome see Hand-foot-genital syndrome Hereditary leiomyomatosis and renal cell cancer Hereditary nonpolyposis colorectal cancer see Lynch syndrome Hereditary nonpolyposis colorectal neoplasms see Lynch syndrome Hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome HFG syndrome see Hand-foot-genital syndrome HFGS see Hand-foot-genital syndrome HFU syndrome see Hand-foot-genital syndrome Hirschsprung disease-mental retardation syndrome see Mowat-Wilson syndrome HLRCC see Hereditary leiomyomatosis and renal cell cancer HMCS see McKusick-Kaufman syndrome HNPCC see Lynch syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation see McKusick-Kaufman syndrome 21-hydroxylase deficiency 3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency Hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome Hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome Hypogonadotropic hypogonadism and anosmia see Kallmann syndrome Hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome - I - - J - - K - Kallmann syndrome Kaufman-McKusick syndrome see McKusick-Kaufman syndrome 17-ketosteroid reductase deficiency of testis see 17-beta hydroxysteroid dehydrogenase 3 deficiency Klinefelter syndrome 17-KSR deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency - L - Leiomyomatosis and renal cell cancer see Hereditary leiomyomatosis and renal cell cancer LRCC see Hereditary leiomyomatosis and renal cell cancer Lynch syndrome - M - Male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency Marinesco-Garland syndrome see Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome Mayer-Rokitansky-Küster-Hauser-like syndrome see WNT4 Müllerian aplasia and ovarian dysfunction McKusick-Kaufman syndrome MCL see Hereditary leiomyomatosis and renal cell cancer MCUL see Hereditary leiomyomatosis and renal cell cancer Mesomelic dwarfism-small genitalia syndrome see Robinow syndrome Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease see Mowat-Wilson syndrome MKS see McKusick-Kaufman syndrome Monosomy X see Turner syndrome Mowat-Wilson syndrome MSS see Marinesco-Sjögren syndrome Mucoviscidosis see Cystic fibrosis Mullerian aplasia and hyperandrogenism see WNT4 Müllerian aplasia and ovarian dysfunction Müllerian duct failure see WNT4 Müllerian aplasia and ovarian dysfunction Multiple cutaneous and uterine leiomyomata see Hereditary leiomyomatosis and renal cell cancer Multiple cutaneous leiomyoma see Hereditary leiomyomatosis and renal cell cancer MWS see Mowat-Wilson syndrome - N - Neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency - O - Opitz G/BBB syndrome - P - 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Popliteal pterygium syndrome POR Deficiency see Cytochrome P450 oxidoreductase deficiency PORD see Cytochrome P450 oxidoreductase deficiency PPS see Popliteal pterygium syndrome PPSH see 5-alpha reductase deficiency Pseudohermaphroditism, male, with gynecomastia see 17-beta hydroxysteroid dehydrogenase 3 deficiency Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency Pure gonadal dysgenesis 46,XY see Swyer syndrome - Q - - R - Reed's syndrome see Hereditary leiomyomatosis and renal cell cancer Robinow syndrome RSH Syndrome see Smith-Lemli-Opitz syndrome - S - SLO syndrome see Smith-Lemli-Opitz syndrome SLOS see Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency Swyer syndrome - T - Testicular feminization see Androgen insensitivity syndrome TS see Turner syndrome Turner syndrome Type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency - U - Ullrich-Turner syndrome see Turner syndrome - V - - W - WAGR Complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome WNT4 Müllerian aplasia and ovarian dysfunction - X - 45,X see Turner syndrome X-linked adrenal hypoplasia congenita X-linked alpha-thalassemia/mental retardation syndrome see Alpha thalassemia X-linked mental retardation syndrome X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome XLMR-hypotonic face syndrome see Alpha thalassemia X-linked mental retardation syndrome 46,XX testicular disorder of sex development XX male syndrome see 46,XX testicular disorder of sex development XX sex reversal see 46,XX testicular disorder of sex development 47,XXY see Klinefelter syndrome XXY syndrome see Klinefelter syndrome XXY trisomy see Klinefelter syndrome 48,XXYY syndrome XXYY syndrome see 48,XXYY syndrome 46,XY CGD see Swyer syndrome 46,XY complete gonadal dysgenesis see Swyer syndrome XY pure gonadal dysgenesis see Swyer syndrome - Y - Y chromosome infertility - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.