From HPO
Azoospermia- MedGen UID:
- 2150
- •Concept ID:
- C0004509
- •
- Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder- MedGen UID:
- 43876
- •Concept ID:
- C0021359
- •
- Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
True hermaphroditism- MedGen UID:
- 78595
- •Concept ID:
- C0266361
- •
- Disease or Syndrome
The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Bifid scrotum- MedGen UID:
- 90968
- •Concept ID:
- C0341787
- •
- Congenital Abnormality
Midline indentation or cleft of the scrotum.
Hypoplasia of the vagina- MedGen UID:
- 91040
- •Concept ID:
- C0345309
- •
- Congenital Abnormality
Developmental hypoplasia of the vagina.
Perineal hypospadias- MedGen UID:
- 105292
- •Concept ID:
- C0452148
- •
- Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
Small scrotum- MedGen UID:
- 141577
- •Concept ID:
- C0455792
- •
- Finding
Apparently small scrotum for age.
Non-obstructive azoospermia- MedGen UID:
- 866757
- •Concept ID:
- C4021107
- •
- Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Ovotestis- MedGen UID:
- 1634511
- •Concept ID:
- C4551490
- •
- Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Abnormal skeletal morphology- MedGen UID:
- 868760
- •Concept ID:
- C4023165
- •
- Anatomical Abnormality
An abnormality of the form, structure, or size of the skeletal system.
Elevated circulating follicle stimulating hormone level- MedGen UID:
- 867192
- •Concept ID:
- C4021550
- •
- Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level- MedGen UID:
- 868698
- •Concept ID:
- C4023101
- •
- Finding
An elevated concentration of luteinizing hormone in the blood.
Decreased serum testosterone concentration- MedGen UID:
- 892974
- •Concept ID:
- C4073137
- •
- Finding
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system