- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:361)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:361)
- Testicular adrenal rest tumor (HP:0025451): Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:361)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Hypoglycemic coma (HP:0001325): Coma induced by low blood sugar. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Leydig cell neoplasia (HP:0100618): The presence of a neoplasm of the testis with origin in a Leydig cell. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:361)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:361)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:361)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Generalized hyperpigmentation (HP:0007440). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Abnormal circulating adrenocorticotropin concentration (HP:0011043): An abnormal concentration of corticotropin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Ketotic hypoglycemia (HP:0012734): Low blood glucose is accompanied by elevated levels of ketone bodies in the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Impaired cortisol response to insulin stimulation test (HP:0031076): Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Decreased circulating dehydroepiandrosterone concentration (HP:0031214). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:361)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Hypoglycemic seizures (HP:0002173). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Hypernatriuria (HP:0012605): An increased concentration of sodium(1+) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:361)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:361)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:361)
These phenotypes are associated with the disease Familial glucocorticoid deficiency (ORPHA:361).
The following phenotypes are NOT associated with this disease:
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (ORPHA:361)