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.
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
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.
Anosmia- MedGen UID:
- 1950
- •Concept ID:
- C0003126
- •
- Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hypogonadotropic hypogonadism- MedGen UID:
- 82883
- •Concept ID:
- C0271623
- •
- Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones
Absence of pubertal development- MedGen UID:
- 375841
- •Concept ID:
- C1846228
- •
- Finding
Decreased circulating follicle stimulating hormone concentration- MedGen UID:
- 892977
- •Concept ID:
- C4072889
- •
- Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level- MedGen UID:
- 893008
- •Concept ID:
- C4072890
- •
- Finding
A reduction in the circulating level of luteinizing hormone (LH).
Gynecomastia- MedGen UID:
- 6694
- •Concept ID:
- C0018418
- •
- Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
- Abnormality of the breast
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system