1/9. "cafe-au-lait spots" caused by vitiligo in McCune-Albright syndrome.cafe-au-lait spots, fibrous dysplasia of bone, and endocrine gland hyperactivity are the principal features of McCune-Albright syndrome (MAS). cafe-au-lait spots appear at, or soon after, birth. We illustrate "cafe-au-lait spots" acquired during middle age in a patient with MAS that are an illusion caused by vitiligo. This 64-year-old woman is the oldest patient reported with this disorder.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/9. Paediatric management of endocrine complications in McCune-Albright syndrome.McCune-Albright syndrome was diagnosed at 2.5 years in a male, with a lower limb fracture and cafe-au-lait markings. Polyostotic fibrous dysplasia was treated with pamidronate for 4 years, with control of bone pain, improved quality of life, normal growth and visual fields monitored 4-6 monthly. Gonadotrophin independent precocious puberty occurred between ages 5-7 years but was slowly progressive, requiring no treatment. Bone age was 9 years at 7.5 years. From age 8-8.5 years, growth velocity increased further, with widening of spaces between teeth, acral enlargement, sweating and facial acne but no change in pubertal status (testes 6 ml, pubic hair Tanner stage I). Binasal field loss occurred. MRI demonstrated a bulging pituitary gland typical of adolescence, with no discrete tumour, with a markedly thickened calvarium and sphenoid. Bone age advanced from 9 to 12 years in 1 year. Basal growth hormone (GH) was 78 mIU/l, rising to 100 mIU/l with glucose tolerance test, basal IGF-I 2.4 IU/l, FSH <0.1 mIU/l, LH 0.1 mIU/l, testosterone 1.4 nmol/l. Treatment with octreotide LAR, flutamide and testolactone resulted in control of GH (12 mIU/l) and precocious puberty, slowing of growth, return to normal jaw size and tooth spacing, sweating, acne, facial appearance and restoration of full visual fields. Response demonstrated short-term efficacy of medical treatment and a remarkable capacity for facial remodelling in a child with acromegaly. Visual field change is attributed to reduction in soft tissue swelling around the optic foramina. Management issues concern long-term control of GH secretion, the impracticability of surgery in this patient and radiotherapy concerns in a young child.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/9. Visual symptoms in McCune-Albright syndrome--case report.McCune-Albright syndrome is a rare complex genetic disorder. It is diagnosed on the basis of bone lesions--fibrous dysplasia, accompanied by at least one additional symptom: hyperactivity of endocrine glands or cafe au lait skin spots. We present symptoms, clinical picture and diagnostic procedure in a 15-year-old patient with visual disorders in the course of McCune-Albright syndrome. The ophthalmic disturbances were the part of described syndrome. The active behaviour of the ophthalmologist in multidisciplinary diagnostic procedure led to the establishment of a proper diagnosis and optimal treatment.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/9. cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy.The sexual precocity of polyostotic fibrous dysplasia is occasionally accompanied by other endocrine disorders, but in only two previous instances has cushing syndrome been reported. The history of a 6-month-old girl is presented, in whom this syndrome was complicated by congenital Cushings syndrome. Although endocrinopathies of polyostotic fibrous dysplasia have usually been ascribed to a central (hypothalamic) origin, the findings in this patient suggest autonomous hyperfunction of the peripheral endocrine glands, with the cushing syndrome caused by hyperplastic nodules in the adrenal glands and the precocity by luteinized follicular cysts of the ovary.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
5/9. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.BACKGROUND. The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, cafe au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic amp (cAMP). We analyzed dna from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation. methods. Genomic dna fragments encompassing regions (exons 8 and 9) previously found to contain activating missense mutations of the Gs alpha gene (gsp mutations) in sporadically occurring pituitary tumors were amplified in tissues from four patients with the McCune-Albright syndrome by the polymerase chain reaction. The amplified dna was analyzed for mutations by denaturing gradient gel electrophoresis and allele-specific oligonucleotide hybridization. RESULTS. We detected one of two activating mutations within exon 8 of the Gs alpha gene in tissues from all four patients, including affected endocrine organs (gonads, adrenal glands, thyroid, and pituitary) and tissues not classically involved in the McCune-Albright syndrome. In two of the patients, histidine was substituted for arginine at position 201 of Gs alpha, and in the other two patients cysteine was substituted for the same arginine residue. In each patient the proportion of cells affected varied from tissue to tissue. In two endocrine organs, the highest proportion of mutant alleles was found in regions of abnormal cell proliferation. CONCLUSIONS. Mutations within exon 8 of the Gs alpha gene that result in increased activity of the Gs protein and increased cAMP formation are present in various tissues of patients with the McCune-Albright syndrome. Somatic mutation of this gene early in embryogenesis could result in the mosaic population of normal and mutant-bearing tissues that may underlie the clinical manifestations of this disease.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
6/9. Albright's syndrome with acromegaly and Hashimoto's thyroiditis: report of a case.The case of a 35-year-old woman with Albright's syndrome, acromegaly and Hashimoto's thyroiditis is presented. She had noted deformity of the left mandible and chest from childhood. She developed persistent galactorrhea and amenorrhea after the delivery of her second child. X ray of the skull, and a head CT, revealed a pituitary tumor and fibrous dysplasia of the left mandible, sphenoid, zygomatic bone and pteryoid plate. serum GH and PRL levels were markedly elevated. She received recontouring surgery of the left mandible, and a pathological examination confirmed the diagnosis of fibrous dysplasia. Chest X ray also showed fibrous dysplastic change of the left 4th, 5th, 6th and 7th ribs and left clavicle. Because of poor response to bromocriptine, she received a craniotomy to remove the pituitary macroadenoma. Pathological examination of the tumor revealed an acidophilic tumor. Postoperative radiotherapy was given for residual active tumor. She developed adrenal crisis two months after radiotherapy when she discontinued replacement therapy. The diagnosis of Hashimoto's thyroiditis was arrived at by palpation of the goiter, elevated thyroid antibodies, ultrasound pictures of the thyroid, fine needle aspiration cytology and hypothyroidism. To our knowledge, this is the first report of Albright's syndrome with Hashimoto's thyroiditis. The hypothesis of autoimmune disease is proposed to explain the hypofunction of the endocrine glands associated with Albright's syndrome.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/9. acromegaly and hyperthyroidism associated with McCune-Albright syndrome.A 36-year-old man is described having McCune-Albright syndrome, acromegaly likely due to somatotroph hyperplasia and hyperthyroidism due to adenomatous goiter. Sexual precocity was not noted. The sella was narrow in size and no mass was seen. The decline of elevated GH by hyperglycemia and increase by GHRH-44(NH2) may support somatotroph hyperplasia, but plasma GHRH-44(NH2) levels were not elevated. A mass in the right lobe and enlargement of the left lobe of the thyroid were noted. Thyroid hormone levels in serum and thyroidal radioiodine uptake values were elevated, while TSH measurements in serum were low. The radioiodine scan showed a cold nodule in the right lobe and a hot area in the left of the thyroid. Thyroidal radioiodine was not suppressed following T3 given orally. These findings are compatible with functioning glands autonomously as the mechanism for the endocrinopathies associated with the McCune-Albright syndrome.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/9. Abnormal hypothalamic-pituitary function in polyostotic fibrous dysplasia.Hypothalamic-pituitary dysfunction was found in two patients with polyostotic fibrous dysplasia and leontiasis ossea. Both patients probably had McCune--Albright syndrome with early sexual development, disfiguring craniofacial bone lesions, cutaneous hyperpigmentation and gigantism in childhood. Endocrinological studies revealed measurable plasma growth hormone throughout a 24-h sampling period with preservation of sleep augmented rises. The mean 24-h values were 329 and 7 ng/ml, respectively. Both their mean plasma prolactin concentrations, 385 and 45 ng/ml, and the 24-h secretory patterns of prolactin were abnormal. One patient had an elevated mean plasma cortisol concentration of 8.5 micrograms/dl but the 24-h pattern of cortisol secretion was normal. Basal plasma LH, FSH, TSH, T4 and T3 concentrations were normal but neither patient had a TSH response to TRH. prolactin and growth hormone secretions were, however, increased after TRH. Oral glucose resulted in partial suppression of GH but an exaggerated insulin response in both patients. Post-mortem in one patient revealed a thick calvarium with bony encasement of the pituitary gland. The pituitary and hypothalamus appeared normal on gross, light microscopic and electronmicroscopic examination. These data strongly suggest the presence of hypothalamic-pituitary dysfunction in these two patients.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/9. hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.We present a patient with hyperthyroidism associated with McCune-Albright syndrome (MAS). MAS is a sporadic genetic disease characterized by polyostotic fibrous dysplasia, cafe au lait cutaneous spots and endocrinopathies (peripheral precocious puberty, thyroidopathies, acromegaly, etc.). It is caused by an activating mutation of the gene for the Gs alpha membrane-associated protein, which mediates the thyrotropin (TSH)-induced and other hormone-induced activation of adenylyl cyclase. A 13-month-old girl was diagnosed with MAS. Precocious puberty was treated initially with testolactone and later with oophorectomy. Subclinical hyperthyroidism was detected biochemically at birth, and 10 months later, it became clinically evident, albeit mild, with absence of goiter. A concomitant liver dysfunction precluded treatment with thionamides and she was sporadically treated with beta-blockers. The combination of increased free thyroxine (T4) and triiodothyronine (T3) with low plasma thyrotropin (TSH) levels in the absence of thyroid-stimulating autoantibodies persisted until the age of 6 years, when she was referred to our unit. hyperthyroidism was then clinically evident with cardiac hyperactivity, and it was cured with administration of radioiodine (131I). Thyroid disease is the second most common endocrinopathy associated with MAS, and since 1936, 63 cases of thyroidopathies have been described, including 19 nodular (14 with and 5 without hyperthyroidism) and 23 diffuse (20 with and 3 without hyperthyroidism) goiters, and 18 cases of hyperthyroidism without goiter. The previously described somatic activating mutation of the gs alpha gene in the ovaries, the liver and the peripheral blood of our patient, in the absence of stigmata, autoimmunity might be incriminated for the secretory and mitotic activation of the thyroid gland. We suggest the treatment of choice of hyperthyroidism in MAS patients should be 131I administration because: (a) hyperthyroidism is very likely to recur after withdrawal of antithyroid medication; (b) the morbidity of these patients is elevated; (c) oophorectomized patients do not need to be advised to avoid procreation during the months after 131I administration; and (d) finally, even in the usual cases of hyperthyroidism in childhood, 131I treatment is becoming more popular worldwide.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |