ABP Pediatric Endocrinology key terms

A condition in which the pituitary gland does not release enough growth hormone, causing slow growth, short stature, and sometimes low blood sugar or delayed puberty.

A hormone made mostly in the liver in response to growth hormone. Blood IGF-1 levels reflect average growth hormone activity and help diagnose growth hormone deficiency or excess.

An estimate of skeletal maturity from a hand and wrist X-ray, compared with standards for age and sex. It helps distinguish constitutional delay from true growth disorders.

A predicted adult height calculated from the parents' heights, adjusted for the child's sex. It gives the genetic target range for judging whether a child's short stature is familial.

A normal growth pattern in which a child matures later than peers, with short stature, delayed bone age, and late puberty, but eventually reaches a normal adult height.

A test that measures growth hormone after a stimulus such as arginine, clonidine, or insulin-induced low blood sugar. Failure to raise growth hormone supports a diagnosis of growth hormone deficiency.

Deficiency of one or more pituitary hormones, which may cause short stature, adrenal insufficiency, hypothyroidism, diabetes insipidus, or delayed puberty depending on which hormones are missing.

A benign tumor near the pituitary and hypothalamus that can cause headaches, vision loss, growth failure, diabetes insipidus, and multiple pituitary hormone deficiencies, often requiring surgery and lifelong hormone replacement.

Thyroid hormone deficiency present at birth, often from an absent or poorly formed gland. Newborn screening allows early treatment that prevents irreversible intellectual disability and growth failure.

An autoimmune disease in which antibodies destroy the thyroid gland, causing goiter and gradual hypothyroidism. It is the most common cause of acquired thyroid disease in children and adolescents.

An autoimmune condition in which antibodies stimulate the thyroid gland to overproduce hormone, causing goiter, weight loss, heat intolerance, tremor, and sometimes eye changes.

An inherited enzyme defect, most often 21-hydroxylase deficiency, that blocks cortisol synthesis and pushes androgen production up, causing virilization, salt wasting, and adrenal insufficiency.

A life-threatening state of severe adrenal hormone deficiency with low blood pressure, dehydration, low blood sugar, and shock. It requires immediate intravenous hydrocortisone, fluids, and glucose.

Failure of the adrenal glands themselves to make enough cortisol and often aldosterone, causing fatigue, low blood pressure, salt loss, and skin darkening from high ACTH.

A disorder of excess cortisol causing weight gain, facial rounding, stretch marks, high blood pressure, high blood sugar, and slowed growth in children.

Puberty that begins earlier than expected, generally before age 8 in girls or age 9 in boys, and may be central, driven by the brain, or peripheral, driven by gonadal or adrenal hormones.

Early puberty caused by premature activation of the hypothalamic-pituitary-gonadal axis, producing progressive breast or testicular development, rapid growth, and advanced bone age.

Failure of puberty to start by an age considered normal, generally 13 in girls and 14 in boys, which may reflect constitutional delay, chronic illness, or gonadal or pituitary disorders.

A condition of irregular periods, excess androgens, and often polycystic ovaries, commonly presenting in adolescence with acne, hirsutism, and insulin resistance.

Low gonadal hormone production caused by insufficient pituitary signaling with low LH and FSH, leading to absent or incomplete puberty and sometimes anosmia in Kallmann syndrome.

A chromosomal condition in females with a missing or partial X chromosome, causing short stature, gonadal failure, webbed neck, and increased risk of heart, kidney, and thyroid disease.

A 46,XY condition in which androgen receptors do not respond to testosterone. Affected individuals have a female appearance, testes, absent uterus, and primary amenorrhea.

A difference of sex development in which a person has XY chromosomes but atypical gonadal or genital development, caused by enzyme defects, androgen insensitivity, or gonadal dysgenesis.

External genitalia that do not appear clearly male or female at birth, prompting urgent evaluation for congenital adrenal hyperplasia and other differences of sex development.

A severe complication of diabetes with high blood sugar, ketones, acidosis, and dehydration, often the first sign of type 1 diabetes in children and a medical emergency.

A blood test that reflects average blood glucose over about two to three months. It is used to diagnose diabetes and to monitor long-term glucose control.

Inappropriate insulin release from pancreatic beta cells in a newborn or infant, causing persistent severe hypoglycemia that can lead to seizures and brain injury if untreated.

An autoimmune disease in which insulin-producing beta cells are destroyed, requiring lifelong insulin therapy and causing high blood sugar, weight loss, and risk of ketoacidosis.

Defective bone mineralization in growing children caused by vitamin D deficiency, low calcium intake, or both, producing bowing, growth failure, and widened growth plates.

An inherited disorder of renal phosphate wasting caused by excess FGF23, leading to rickets, lower limb bowing, dental abscesses, and short stature despite normal vitamin D.

Insufficient parathyroid hormone causing low blood calcium and high phosphate, with tingling, muscle cramps, tetany, and seizures; causes include genetic disorders and neck surgery.

A cluster of central obesity, high blood pressure, abnormal lipids, and high blood sugar that raises the risk of type 2 diabetes and heart disease, increasingly recognized in children.

An inherited disorder of very high LDL cholesterol present from birth that greatly increases the risk of early heart disease and requires early detection and treatment.

Lack of antidiuretic hormone from the pituitary, causing excessive dilute urine and thirst. It can follow pituitary surgery or tumors and is treated with desmopressin.

Syndrome of inappropriate antidiuretic hormone secretion, in which excess hormone causes water retention and low blood sodium, leading to confusion, seizures, and fluid restriction as treatment.

An inherited syndrome caused by RET mutations that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid disease, often requiring early thyroidectomy.

A sporadic disorder with fibrous bone lesions, skin pigmentation, and autonomous endocrine overactivity such as precocious puberty, caused by an activating GNAS mutation.

A genetic imprinting disorder with infantile hypotonia and feeding difficulty, followed by hyperphagia, severe obesity, short stature, hypogonadism, and mild intellectual disability.