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Items: 10

1.

Adrenal gland agenesis

Absent development of the adrenal gland. [from HPO]

MedGen UID:
472999
Concept ID:
C0266273
Congenital Abnormality; Finding
2.

Mineralocorticoid deficiency, isolated

MedGen UID:
413542
Concept ID:
C2749175
Disease or Syndrome
3.

Adrenal hypoplasia

MedGen UID:
411204
Concept ID:
C2746070
Disease or Syndrome
4.

Addison disease

Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair.Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia).Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection.Individuals with autoimmune Addison disease or their family members often have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
[from GHR]

MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
5.

Adrenal hypoplasia

MedGen UID:
337539
Concept ID:
C1846223
Finding
6.

Adrenal insufficiency, progressive, and hypogonadotropic hypogonadism

MedGen UID:
337537
Concept ID:
C1846221
Disease or Syndrome
7.

Adrenal hypoplasia, congenital, with precocious puberty

MedGen UID:
337418
Concept ID:
C1846220
Disease or Syndrome
8.

Congenital adrenal hypoplasia, X-linked

X-linked adrenal hypoplasia congenita (X-linked AHC) is characterized by infantile-onset acute primary adrenal insufficiency at an average age of three weeks in approximately 60% of affected individuals. Onset in approximately 40% is in childhood. A few individuals present in adulthood with delayed-onset adrenal failure or partial hypogonadism due to partial forms of X-linked AHC. Adrenal insufficiency typically presents acutely in male infants with vomiting, feeding difficulty, dehydration, and shock caused by a salt-wasting episode. Hypoglycemia (sometimes presenting with seizures) or isolated salt loss may be the first symptom of X-linked AHC. Cortisol may be low or within the normal range, which is inappropriately low for a sick child. In older children, adrenal failure may be precipitated by intercurrent illness or stress. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. Affected males typically have delayed puberty (onset age >14 years) or arrested puberty caused by hypogonadotropic hypogonadism (HH). Early pubertal development with pubertal arrest has been reported in some cases. Males with classic X-linked AHC are infertile despite treatment with exogenous gonadotropin therapy or pulsatile gonadotropin-releasing hormone (GnRH), although testicular sperm extraction-intracytoplasmic sperm injection (TESE-ICSI) has been successful in one case. Carrier females may very occasionally have symptoms of adrenal insufficiency or hypogonadotropic hypogonadism as a result of skewed X-chromosome inactivation. [from GeneReviews]

MedGen UID:
87442
Concept ID:
C0342482
Congenital Abnormality; Disease or Syndrome
9.

Congenital adrenal hypoplasia

A type of adrenal hypoplasia with congenital onset. [from HPO]

MedGen UID:
65094
Concept ID:
C0220766
Disease or Syndrome; Finding
10.

Primary adrenal insufficiency

Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include. -Weight loss . -Muscle weakness . -Fatigue that gets worse over time . -Low blood pressure . -Patchy or dark skin . Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
1324
Concept ID:
C0001403
Disease or Syndrome
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