Version June 2024
| Bone age | Child height | Adult height | Key features | |
| Overgrowth in infancy | ||||
| Infant of a diabetic mother | Normal | Normal | Normal | Long-term risks for metabolic disease (obesity, diabetes). |
| Cerebral gigantism (Sotos syndrome) (MIM #117550) | Advanced | Tall | Normal | Macrocephaly, high forehead, frontal bossing, hypertelorism, prominent jaw, high-arched palate, intellectual disability, hypotonia, poor coordination. |
| Beckwith-Wiedemann syndrome (MIM #130650) | Advanced | Tall | Tall | Macrosomia, hemihypertrophy (lateralized overgrowth), visceromegaly, embryonal tumors (Wilms tumor, hepatoblastoma), characteristic facies, kidney and cardiac anomalies. |
| Overgrowth in childhood and adolescence | ||||
| Normal variant | ||||
| Familial (constitutional) tall stature | Normal | Tall | Tall | One or both parents are tall; child's growth is within the range predicted by the mid-parental "target" height. |
| Endocrine disorders | ||||
| Precocious puberty (multiple causes) | Advanced | Tall | Normal or short (if untreated) | |
| Most cases in girls are idiopathic. Central nervous system lesions should be excluded, especially in boys. | |||
| May be caused by ovarian or testicular tumors, exogenous estrogens or androgens, or adrenal pathology. McCune-Albright syndrome is suggested by café-au-lait skin pigmentation and fibrous dysplasia of bone. A familial form affects only boys*. | |||
| Growth hormone excess (pituitary gigantism) | Normal (or delayed)¶ | Causes gigantism in growing children or acromegaly in adults. | ||
| Hyperthyroidism | Advanced | Tall | Normal or short (if untreated) | Stare, lid lag; may have proptosis and/or goiter. Increased linear growth normalizes with treatment of the hyperthyroidism. |
| Sex hormone deficiency or insensitivity | Delayed | Tall | Tall | Long limbs compared with trunk. |
| Familial glucocorticoid deficiency, type 1 (MIM #202200) | Advanced | Tall | Normal or short | Hyperpigmentation, muscle weakness, hypoglycemia, and seizures. Some patients also have features of Allgrove syndrome (adrenal insufficiency, achalasia, and alacrima [absence of tears]). |
| Familial glucocorticoid resistance (MIM #615962) | Advanced | Tall | Normal | Females present with hirsutism, male-pattern baldness, menstrual abnormalities, and infertility. Males present with isosexual precocious puberty, abnormal spermatogenesis, and infertility. Males and females have hypertension and hypokalemic alkalosis. |
| Congenital total lipodystrophy (MIM #608594 and others) | Advanced | Tall | Normal or tall | Generalized absence of subcutaneous fat and muscular hypertrophy presenting in infancy, with overgrowth and acromegaloid changes. Patients also develop hyperpigmentation, enlargement of the penis or clitoris, advanced bone age, insulin resistance, hyperinsulinemia, hyperlipidemia, and nonketotic hyperglycemia. |
| Nonendocrine disorders | ||||
| Obesity (common, nonsyndromic) | Normal or advanced | Tall | Normal | High weight-for-height and body mass index; family history of obesity. May have mild Cushingoid features. |
| Melanocortin 4 receptor (MC4R) mutation (MIM #618406) | Advanced | Tall | Tall | Approximately 4% of individuals with early-onset obesity have an MC4R mutation. Height tends to be taller than expected for those with common obesity, and growth hormone pulsatility is increased[1]. |
| Klinefelter syndrome | Normal (or delayed)Δ | Normal or tall | Normal | Relatively long legs; may have learning disabilities, mainly in expressive language. May have gynecomastia, hypogonadism, small testes and phallus, hypospadias, and cryptorchidism. The most common karyotype is 47,XXY. |
| 47,XYY (Jacob syndrome) | Normal | Normal or tall | Mild abnormalities, including possible delay in motor and language development, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. | |
| Marfan syndrome (MIM #154700) | Usually normal | Tall | Tall | Long thin fingers (arachnodactyly), increased arm span compared with height, hyperextension of joints, and lens subluxation. May have pectus excavatum, scoliosis, aortic or mitral regurgitation, and aortic root dilatation. |
LH: luteinizing hormone.
* Familial male-limited precocious puberty (testotoxicosis) is caused by an activating mutation in the LH receptor gene.
¶ Bone age in patients with growth hormone excess (pituitary gigantism) may be delayed if the disease also interferes with pituitary secretion of gonadotropins.
Δ Bone age in patients with Klinefelter syndrome may be normal or delayed, depending on the level of testosterone secretion.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
