Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Homocystinuria – collective name for a group of autosomal recessive hereditary metabolic disorders that result in increased concentrations of the amino acid homocysteine in the blood and homocystine in the urine, leading to symptoms similar to Marfan syndrome.
- Klinefelter syndrome (XXY) – gonosomes (sex chromosomes) abnormality of the male sex, which leads to primary hypogonadism (gonadal hypofunction); here tall stature due toincreased growth of the long tubular bones / “eunuchoid tall stature” due to delayed epiphyseal closure (growth plates)) with large hands / feet, but small head.
- Marfan syndrome – genetic disease that can be inherited both autosomal-dominant or occur sporadically (as a new mutation); systemic connective tissue disease, which is notable mainly by tall stature, spider-limbedness and hyperextensibility of the joints; 75% of these patients have an aneurysm (pathological (pathological) bulge of the arterial wall).
- Sotos syndrome – congenital malformation syndrome occurring mostly sporadically by spontaneous mutation, occasional familial cases with autosomal dominant or recessive inheritance have been described; age of manifestation is the neonatal period: Characterized by accelerated body growth from birth, advanced bone age relative to age, macrocephaly (disproportionately large skull circumference), and marked slowing of motor, cognitive, and language development; somatomedin is increased
- Total lipodystrophy, congenital – rare, autosomal recessive metabolic disorder characterized by partial or total wasting of the adipose tissue organ; the hereditary form is associated with disorders of fat and carbohydrate metabolism, as well as muscle hypertrophy and accelerated growth
Endocrine, nutritional and metabolic diseases (E00-E90).
- Childhood obesity – large at onset of puberty; tends to be normal size in adulthood because of early closure of epiphyseal joints (growth plates)
- Acromegaly – due to overproduction of growth hormones (human growth hormone (HGH), GH; somatotropin; somatotropic hormone (STH)) in the anterior pituitary lobe (HVL), proportioned gigantism (pituitary gigantism; pronounced tall stature; patients often reach a height of > 2 m) occurs in childhood before the closure of the epiphyseal joints (growth plates). In adults, i.e. after completion of physiological growth, the excessive STH production manifests itself exclusively on the head, acras (see above) and visceral organs (abdominal organs).
- Glucocorticoid deficiency:
- Familial glucocorticoid deficiency; rare, autosomal recessive disorder; symptoms: Hypoglycemia (low blood sugar), convulsions, increased skin pigmentation, and in isolated cases tall stature or advanced bone age.
- Familial glucocorticoid resistance (primary cortisol resistance); rare cause of hypercortisolism without symptoms of hypercortisolism due tomalfunction of the glucocorticoid receptor; symptomatology: excess of androgens and mineralocorticoids as a result of increased ACTH level
- Hyperthyroidism (hyperthyroidism) – usually causes increased growth, advanced bone age, and premature craniosynostosis (premature ossification of one or more cranial sutures; with persistent hyperthyroidism) in children and adolescents.
- Hypogonadism (gonadal insufficiency) – symptomatology dependent on onset of gonadal insufficiency (before or after puberty); in the absence of normal gonadal development, puberty may not occur → delayed skeletal maturation, prolonged growth period and consecutive above-average body size (strikingly long legs); boys show a eunuchenid physiognomy, ie. i.e. lack of beard growth, boyish (high) voice, strong growth in length, as well as hypoplastic testes (small testicles) and small penis.
- Pubertas praecox (premature puberty) – including accelerated length growth, often with markedly advanced bone maturation; in adulthood rather small due toearly closure of the epiphyseal joints.
Neoplasms (C00-D48)
- STH-producing tumors of the pituitary (hypophysis) and extrapituitary (carcinoid, pancreatic (pancreas), small cell carcinoma of the lung, adrenal, pheochromocytoma).
Further
- Constitutional (familial) high growth
