McCune-Albright syndrome


McCune-Albright syndrome
A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called Albright syndrome or polyostotic fibrous dysplasia. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an increased rate of growth. The McCune-Albright syndrome is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1). The syndrome shows a broad spectrum of severity. Sometimes, children are diagnosed in early infancy with obvious bone disease and markedly increased endocrine secretions from several glands. At the opposite end of the spectrum, many children are entirely healthy, and have little or no outward evidence of bone or endocrine involvement. They may enter puberty close to the normal age, and have no unusual skin pigment at all. Endocrine Abnormalities Precocious Puberty — When the signs of puberty (development of breasts, testes, pubic and underarm hair, body odor, menstrual bleeding, and increased growth rate) appear before the age of 8 years in a girl or 9 1/2 years in a boy, it is termed "precocious puberty." In the most common form of precocious puberty, there is early activation of the regions in the brain which control the maturation of the gonads (ovaries in a girl and testes in a boy). One brain center, the hypothalamus, secretes a substance called gonadotropin-releasing-hormone or "GnRH." This acts, in turn, on another part of the brain, the pituitary gland, to cause increased secretion of hormones called "gonadotropins" (LH and FSH) that travel through the bloodstream, and act on the ovaries or testes to stimulate secretion of estrogen or testosterone. The precocious puberty in McCune-Albright girls is caused by estrogens which are secreted into the bloodstream by ovarian cysts, which enlarge, and then decrease in size over periods of weeks to days. The cysts can be visualized and measured by ultrasonography, in which sound waves are used to outline the dimensions of the ovaries. The cysts may become quite big, occasionally over 50 cc in volume (about the size of a golf ball). Frequently, menstrual bleeding and breast enlargement accompany the growth of a cyst. In fact, menstrual bleeding under 2 years of age has been the first symptom of McCune-Albright syndrome in 85% of patients. Although ovarian cysts and irregular menstrual bleeding may continue into adolescence and adulthood, many adult women with McCune-Albright syndrome are fertile, and can bear normal children.

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fibrous dysplasia of long bones coupled with café au lait spots and precocious puberty, occurring in both males and females.
D. J. McCune (1902-76), US paediatrician; F. Albright (1900-69), US physician

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Mc·Cune-Al·bright syndrome (mə-kūnґ awlґbrīt) [Donovan James McCune, American pediatrician, 1902–1976; Fuller Albright, American physician, 1900–1969] Albright syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • McCune–Albright syndrome — McCune Albright syndrome Classification and external resources Café au lait skin pigmentation. A) A typical lesion on the face, chest, and arm of a 5 year old girl with McCune Albright syndrome which demonstrates jagged coast of Maine borders,… …   Wikipedia

  • McCune-Albright syndrome — Infobox Disease Name = McCune Albright syndrome Caption = DiseasesDB = 7880 ICD10 = ICD10|Q|78|1|q|65 ICD9 = ICD9|756.54 ICDO = OMIM = 174800 MedlinePlus = 001217 eMedicineSubj = ped eMedicineTopic = 1386 MeshID = D005359 McCune Albright syndrome …   Wikipedia

  • McCune-Albright syndrome — polyostotic fibrous dysplasia of long bones coupled with café au lait spots and precocious puberty, occurring in both males and females [J. McCune (1902–76), US paediatrician; F. Albright (1900–69), US physician] …   The new mediacal dictionary

  • Albright syndrome — 1. A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune Albright syndrome and polyostotic fibrous dysplasia. In the syndrome, there is bone disease with fractures and deformity …   Medical dictionary

  • McCune-Albright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • Albright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • McCune-Aulbright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Albright — Fuller, U.S. physician, 1900–1969. See A. disease, A. syndrome, A. hereditary osteodystrophy, Forbes A. syndrome, McCune A. syndrome …   Medical dictionary

  • McCune — Donovan James, U.S. pediatrician, 1902–1976. See M. Albright syndrome …   Medical dictionary


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