| HPO |
HP:0000823 |
Delayed puberty |
"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] |
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. |
HP:0001510, HP:0008373 |
| HPO |
HP:0000824 |
Decreased response to growth hormone stimulation test |
"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [HPO:probinson, PMID:25914878] |
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. |
HP:0000830, HP:0032367 |
| HPO |
HP:0000825 |
Hyperinsulinemic hypoglycemia |
"An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson] |
Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. |
HP:0000842 |
| HPO |
HP:0000826 |
Precocious puberty |
"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." [HPO:probinson] |
— |
HP:0100000 |
| HPO |
HP:0000828 |
Abnormality of the parathyroid gland |
"An abnormality of the parathyroid gland." [HPO:curators] |
There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. |
HP:0000818 |
| HPO |
HP:0000829 |
Hypoparathyroidism |
"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [HPO:probinson] |
— |
HP:0011767 |
| HPO |
HP:0000830 |
Anterior hypopituitarism |
"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson] |
— |
HP:0040075 |
| HPO |
HP:0000831 |
Insulin-resistant diabetes mellitus |
"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [HPO:probinson, PMID:7706500] |
— |
HP:0000819, HP:0000855 |
| HPO |
HP:0000832 |
Primary hypothyroidism |
"A type of hypothyroidism that results from a defect in the thyroid gland." [HPO:probinson] |
— |
HP:0000821 |
| HPO |
HP:0000833 |
obsolete Glucose intolerance |
— |
— |
— |
| HPO |
HP:0000834 |
Abnormality of the adrenal glands |
"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson] |
— |
HP:0000818 |
| HPO |
HP:0000835 |
Adrenal hypoplasia |
"Developmental hypoplasia of the adrenal glands." [HPO:probinson] |
— |
HP:0011732 |
| HPO |
HP:0000836 |
Hyperthyroidism |
"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [HPO:probinson] |
— |
HP:0002926 |
| HPO |
HP:0000837 |
Increased circulating gonadotropin level |
"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [DDD:spark] |
— |
HP:0010514, HP:0030338 |
| HPO |
HP:0000839 |
Pituitary dwarfism |
"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:probinson] |
— |
HP:0004322 |
| HPO |
HP:0000840 |
Adrenogenital syndrome |
"Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [HPO:probinson] |
— |
HP:0008373 |
| HPO |
HP:0000841 |
Hyperactive renin-angiotensin system |
"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [HPO:probinson] |
If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. |
HP:0000847 |
| HPO |
HP:0000842 |
Hyperinsulinemia |
"An increased concentration of insulin in the blood." [HPO:probinson] |
— |
HP:0011014, HP:0040215 |
| HPO |
HP:0000843 |
Hyperparathyroidism |
"Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson] |
— |
HP:0011767 |
| HPO |
HP:0000845 |
Elevated circulating growth hormone concentration |
"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [DDD:spark, HPO:probinson] |
Disorder resulting from excess pituitary gland production of growth hormone (hGH). |
HP:0010514, HP:0032367 |
| HPO |
HP:0000846 |
Adrenal insufficiency |
"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [HPO:probinson, PMID:11443143] |
Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. |
HP:0011733 |
| HPO |
HP:0000847 |
Abnormality of renin-angiotensin system |
"An abnormality of the renin-angiotensin system." [HPO:probinson] |
The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. |
HP:0000818 |
| HPO |
HP:0000848 |
Increased circulating renin level |
"An increased level of renin in the blood." [HPO:probinson] |
— |
HP:0040084 |
| HPO |
HP:0000849 |
Adrenocortical abnormality |
— |
— |
HP:0011732 |
| HPO |
HP:0000851 |
Congenital hypothyroidism |
"A type of hypothyroidism with congenital onset." [HPO:probinson] |
— |
HP:0000821 |