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Items: 4

1.

Anorexia

MedGen UID:
743955
Concept ID:
C1971624
Disease or Syndrome; Finding
2.

Signs and Symptoms, Digestive

Digestive system manifestations of diseases of the gastrointestinal system or of other organs. [from MeSH]

MedGen UID:
19975
Concept ID:
C0037089
Sign or Symptom
3.

Glucocorticoid deficiency 3

Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive). If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. Other features of familial glucocorticoid deficiency can include recurrent infections and skin coloring darker than that of other family members (hyperpigmentation). There are multiple types of familial glucocorticoid deficiency, which are distinguished by their genetic cause.
[from GHR]

MedGen UID:
332252
Concept ID:
C1836621
Disease or Syndrome
4.

Glucocorticoid deficiency 4

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

MedGen UID:
766501
Concept ID:
C3553587
Disease or Syndrome
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