Cryptorchidism, and Hypospadias

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

Medium match 46,XX SEX REVERSAL 2; SRXX2

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

• Cryptorchidism
• Hypospadias
• Osteoporosis
• Hypogonadism
• Micropenis

SOURCES: ORPHANET OMIM MENDELIAN

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.

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

SOURCES: ORPHANET MENDELIAN

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

• Muscle weakness
• Cryptorchidism
• Hypertension
• Myopathy
• Headache

SOURCES: OMIM ORPHANET MENDELIAN

Medium match N SYNDROME

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN