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Results: 13

1.

Klinefelter's syndrome, XXY

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population. Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
[from GHR]

MedGen UID:
44033
Concept ID:
C0022735
Congenital Abnormality
2.

Gynecomastia

MedGen UID:
409558
Concept ID:
C1963120
Finding
3.

Sex-linked hereditary disorder

Disorders occurring in either sex and which are transmitted by genes in the sex chromosomes. [from PSY]

MedGen UID:
183658
Concept ID:
C0949683
Disease or Syndrome
4.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
5.

Infertility

Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs or surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
43876
Concept ID:
C0021359
Pathologic Function
6.

Disorder of sex development

Abnormalities in the development of the GONADS, the genital tracts, the external GENITALIA, and gender-specific behavior. [from MeSH]

MedGen UID:
20725
Concept ID:
C0036875
Disease or Syndrome
7.

Oligospermia

A disorder characterized by a decrease in the number of spermatozoa in the semen. [from NCI]

MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
8.

Male infertility

Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Male infertility can result from physical problems, hormone problems, and lifestyle or environmental factors. About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technologies. Happily, two-thirds of couples treated for infertility are able to have babies. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
9.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include: -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
10.

Congenital chromosomal disease

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) [from MeSH]

MedGen UID:
3441
Concept ID:
C0008626
Disease or Syndrome
11.

Gynecomastia, familial

MedGen UID:
375404
Concept ID:
C1844375
Disease or Syndrome
12.

Short long bone

One or more abnormally short long bone. [from HPO]

MedGen UID:
832972
Concept ID:
CN002735
Finding
13.

XXYY syndrome

A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome. [from NCI]

MedGen UID:
422434
Concept ID:
C2936741
Congenital Abnormality

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