Cryptorchidism, and Hypospadias

Diseases related with Cryptorchidism and Hypospadias

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.


Top matches:

Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY


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

Related symptoms:

  • Cryptorchidism
  • Hypoplasia of penis
  • Ambiguous genitalia
  • Scrotal hypoplasia
  • Bifid scrotum


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY

Medium match TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD


Related symptoms:

  • Cryptorchidism
  • Hernia
  • Hypospadias
  • Abnormal heart morphology
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD

Medium match 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT


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

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Hypogonadism
  • Hypoplasia of penis
  • Ambiguous genitalia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

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Other less relevant matches:

Medium match 46,XX SEX REVERSAL 2; SRXX2


46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome

Related symptoms:

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about 46,XX SEX REVERSAL 2; SRXX2

Medium match LEYDIG CELL HYPOPLASIA, TYPE I


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). ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23 ) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (OMIM ) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

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

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEYDIG CELL HYPOPLASIA, TYPE I

Medium match PARTIAL ANDROGEN INSENSITIVITY SYNDROME


Partial 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

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Osteoporosis
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL ANDROGEN INSENSITIVITY SYNDROME

Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY


46,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.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match N SYNDROME


N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

Medium match TRISOMY XQ28


Distal 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:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypospadias

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
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Other less frequent symptoms

Patients with Cryptorchidism and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased fertility Male pseudohermaphroditism Hypogonadism Hypoplasia of penis Primary amenorrhea Delayed skeletal maturation Decreased serum testosterone level Polycystic ovaries Infertility Urogenital sinus anomaly Scrotal hypoplasia

Rare Symptoms - Less than 30% cases


Testicular dysgenesis Elevated circulating follicle stimulating hormone level Decreased testicular size Osteoporosis Short stature Global developmental delay Primary gonadal insufficiency Aplasia of the uterus Absence of secondary sex characteristics Secondary amenorrhea Hypergonadotropic hypogonadism Ambiguous genitalia, male Microphallus Hypoplasia of the vagina Amenorrhea Female pseudohermaphroditism Abnormality of male internal genitalia Sex reversal Abnormality of the uterus Hypoplasia of the uterus True hermaphroditism Ovotestis Azoospermia Abnormal scrotal rugation Intellectual disability Neoplasm Hypokalemia Failure to thrive in infancy Hearing impairment Accelerated skeletal maturation Generalized muscle weakness Adrenogenital syndrome Hyperaldosteronism Hypokalemic alkalosis Increased circulating cortisol level Congenital adrenal hyperplasia Spasticity Adrenal hyperplasia Decreased circulating renin level Feeding difficulties in infancy Metabolic alkalosis Alkalosis Gait disturbance Anemia Headache Abnormality of chromosome segregation Tented upper lip vermilion Everted lower lip vermilion Severe global developmental delay Neurological speech impairment Blepharophimosis Joint stiffness Pectus excavatum Intellectual disability, severe Epicanthus Visual impairment Ptosis T-cell lymphoma/leukemia Abnormal eye morphology Abnormality of chromosome stability Chromosome breakage Abnormal eyelid morphology Megalocornea Bilateral sensorineural hearing impairment Leukemia Abnormality of metabolism/homeostasis Incomplete male pseudohermaphroditism Myopathy Male hypogonadism Hyoplasia of the Leydig cells Abnormal vas deferens morphology Testicular gonadoblastoma Abnormal internal genitalia Enlarged ovaries Abnormal external genitalia Female hypogonadism Breast aplasia Increased circulating gonadotropin level Male infertility Gonadal dysgenesis Abnormality of the skeletal system Pain Abnormality of female internal genitalia Growth abnormality Tetralogy of Fallot Abnormal heart morphology Hernia Abnormality of the endocrine system Clitoral hypertrophy Oligospermia Hypertension Enlarged polycystic ovaries Muscle weakness Decreased circulating androgen level Abnormality of creatine metabolism Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Decreased fertility in males Dysmenorrhea Decreased fertility in females Elevated circulating luteinizing hormone level Abnormality of the rib cage Decreased serum estradiol Sparse pubic hair Sparse axillary hair Sparse body hair Reduced bone mineral density Delayed puberty Failure to thrive Gonadal neoplasm Absent vas deferens Hernia of the abdominal wall



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