Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

X-linked adrenal hypoplasia congenita


Other Names for this Disease

  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia
  • X-linked AHC
  • X-linked congenital adrenal hypoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of X-linked adrenal hypoplasia congenita?

X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening.[1]

Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism.[1]

The onset and severity of these signs and symptoms can vary, even among affected members of the same family.[1]

Last updated: 8/15/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Absence of pubertal development -
Adrenal hypoplasia -
Cryptorchidism -
Dehydration -
Delayed puberty -
Failure to thrive -
Hyperpigmentation of the skin -
Hypoaldosteronism -
Hypocortisolemia -
Hypogonadotrophic hypogonadism -
Hyponatremia -
Low gonadotropins (secondary hypogonadism) -
Muscular dystrophy -
Renal salt wasting -
X-linked recessive inheritance -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. X-linked adrenal hypoplasia congenita. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita. Accessed 8/15/2012.


Other Names for this Disease
  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia
  • X-linked AHC
  • X-linked congenital adrenal hypoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.