In the following list you will find some of the most common rare diseases related to Cryptorchidism and Hypospadias that can help you solving undiagnosed cases.
46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.
46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY Is also known as steroid 5-alpha-reductase deficiency|pseudovaginal perineoscrotal hypospadias|46,xy dsd due to 5-alpha-reductase 2 deficiency
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46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as 46,xx gonadal dysgenesis, complete, sry-positive|46,xx testicular disorder of sex development|46,xx ovotesticular dsd|xx male, sry-positive|46,xx sex reversal, sry-positive
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SOURCES: ORPHANET OMIM MENDELIAN
More info about 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome
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Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).
LEYDIG CELL HYPOPLASIA, TYPE I Is also known as leydig cell agenesis|leydig cell hypoplasia, complete|hypergonadotropic hypogonadism, male, due to lhcgr defect|leydig cell hypoplasia with male pseudohermaphroditism
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SOURCES: ORPHANET OMIM MENDELIAN
More info about LEYDIG CELL HYPOPLASIA, TYPE IPartial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
PARTIAL ANDROGEN INSENSITIVITY SYNDROME Is also known as familial incomplete male pseudohermaphroditism, type 1|androgen insensitivity, partial, with or without breast cancer|reifenstein syndrome|partial androgen resistance syndrome|pais
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SOURCES: ORPHANET OMIM MENDELIAN
More info about PARTIAL ANDROGEN INSENSITIVITY SYNDROME46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency
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SOURCES: OMIM ORPHANET MENDELIAN
More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCYN syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.
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SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about N SYNDROMEDistal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Bifid scrotum | Common - Between 50% and 80% cases |
Micropenis | Common - Between 50% and 80% cases |
Ambiguous genitalia | Uncommon - Between 30% and 50% cases |
Perineal hypospadias | Uncommon - Between 30% and 50% cases |
Gynecomastia | Uncommon - Between 30% and 50% cases |
Patients with Cryptorchidism and Hypospadias. may also develop some of the following symptoms:
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