Reproductive system

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.

• 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
• 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
• 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
• 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
• congenital bilateral absence of the vas deferens
• cystic fibrosis
• 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
• 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
• 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
• 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
• 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
• 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
• leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
• LRCC see hereditary leiomyomatosis and renal cell cancer
• Lynch syndrome
• 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
• neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
• Opitz G/BBB syndrome
• 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• popliteal pterygium syndrome
• 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
• Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
• Robinow syndrome
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• 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
• Testicular feminization see androgen insensitivity syndrome
• TS see Turner syndrome
• Turner syndrome
• Ullrich-Turner syndrome see Turner syndrome
• 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
• 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
• 46,XY CGD see Swyer syndrome
• 46,XY complete gonadal dysgenesis see Swyer syndrome
• XY pure gonadal dysgenesis see Swyer syndrome
• Y chromosome infertility