1/6. A case of pituitary adenoma associated with McCune-Albright syndrome.A 11-year-old boy presented with right temporal hemianopsia and was evaluated of a possible pituitary adenoma. At the age of six, he underwent surgery for facial deformities due to fibrous dysplasia. On admission, he had acromegalic features, was 170 cm tall, weighing 66 kg. The left side of his face was slightly deformed, and a cafe-au-lait spot was found on his right face. Endocrinologic examination revealed elevated basal level of serum GH (103.6 ng/ml, normal < 3 ng/ml) and PRL (259.1 ng/ml, normal < 30 ng/ml). Other endocrine functions were normal. CT showed hyperostosis of the right frontal, occipital, sphenoidal and maxillary bones. magnetic resonance imaging (MRI) revealed a pituitary macroadenoma with intraadenomatous cyst. On the basis of physical, endocrinologic and neuroradiologic examination, our diagnosis was pituitary adenoma with McCune-Albright syndrome. Surgery was performed by subfrontal approach. By light microscopy, the pituitary tumor represented a typical acidophilic adenoma. Immunoreactivity for GH and PRL were evident in most of the adenoma cells. Double immunostaining for GH and PRL demonstrated the co-existence of the two hormones in a few adenoma cells. However the majority of cells expressed only one hormone. After surgery the right temporal hemianopsia improved. Postsurgical endocrinologic examination revealed reduction in basal serum GH and PRL levels. Administration of bromocriptine decreased blood PRL levels but it had a limited action on GH hypersecretion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Recurrent ectopic calcification involving the maxillofacial skeleton: A potential harbinger of Albright's osteodystrophy.We present a case of osteoma cutis as the initial presenting sign of Albright's osteodystrophy. Albright's osteodystrophy represents a challenge in both diagnosis and treatment because the phenotype manifests as a broad spectrum of biochemical and physical findings. The syndrome may be overlooked, particularly in the early phases when serum calcium and phosphorous levels may be normal. Although surgery is the treatment of osteoma cutis, recurrence is common, creating frustration for the patient's family and the surgeon. In the present case, a girl 4 months and 2 years of age presented with refractory ectopic calcification emanating from the maxilla and demonstrated repeated recurrence after surgical resection. This ectopic calcification was not adequately controlled until Albright's osteodystrophy was properly diagnosed and treated. A differential diagnosis and surgical approach to deal with recurrent ectopic calcification of the facial skeleton is outlined.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment.The McCune-Albright syndrome (MAS) is a sporadic rare disease first described in 1936 by McCune and separately by Albright. MAS is characterized by a triad of physical signs: cafe-au-lait spots, polyostotic fibrous dysplasia and autonomous endocrine hyperfunction. MAS is predominantly observed in girls and is rarely reported in males. We report the case of a 9-year old boy with gonadotropin independent precocious puberty, cafe-au-lait spots, polyostotic fibrous dysplasia and growth hormone hypersecretion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Polyostotic fibrous dysplasia and chronic osteomyelitis in a 12-year-old boy. Diagnostic difficulties in double bone pathology.A twelve-year-old boy with double bone pathology (polyostotic fibrous dysplasia and chronic monofocal osteomyelitis), causing radiologic diagnostic difficulties is reported. The nuclear scan which was interpreted with disregard of the patient's history and physical examination lead to erroneous conclusions. Basic clinical signs and symptoms should always be taken into account when more sophisticated examinations are performed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism). Most patients with AHO have decreased activity of the guanine nucleotide-binding protein (GS protein) that stimulates adenylyl cyclase. The gene encoding the alpha subunit of the GS protein (GNAS1) has been mapped to the long arm of chromosome 20. We describe 4 unrelated individuals with apparent AHO, associated with small terminal deletions of chromosome 2. All 4 patients had normal serum calcium levels consistent with pseudopseudohypoparathyroidism. Del(2) (q37) is the first consistent karyotypic abnormality that has been documented in AHO [Phelan et al., 1993: Am J Hum Genet 53:484]. The finding of the same small terminal deletion in 4 unrelated individuals with a similar phenotype suggests that a gene locus in the 2q37 region is important in the pathogenesis of Albright syndrome. The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. growth hormone-prolactin-thyrotropin-secreting pituitary adenoma in atypical McCune-Albright syndrome with functionally normal Gs alpha protein.The McCune-Albright syndrome (MAS) comprises a triad of physical signs: localized bone lesions termed polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, and autonomous hyperfunction of multiple endocrine systems, including overproduction of GH and T4. A somatic activating point mutation in the gene for the alpha-subunit of the G-protein (Gs alpha) in the affected tissue has been claimed to be the underlying defect. A 29-yr-old patient with MAS, showing polyostotic fibrous dysplasia associated with acromegalic features, underwent endocrinological studies, including oral glucose tolerance test and pituitary stimulation test, and magnetic resonance imaging, revealing elevated plasma concentrations of GH, PRL, and secondary hyperthyroidism due to pituitary macroadenoma infiltrating the sphenoid cavity and extending to the suprasellar space. Subsequently, reduction of tumor mass by a transsphenoidal and a subsequent subfrontal operation led to only marginal amelioration of the excessive hormone production. Postsurgery octreotide and bromocriptine therapy induced near-normalization of hormone concentrations. immunohistochemistry of tumor tissue confirmed the plurihormonal character, but dna sequence analysis did not detect any of the two known activating mutations in the Gs alpha gene. Furthermore, biochemical tests revealed normal Gs alpha function, ruling out other mutations that lead to constitutive Gs alpha activation. Our study documents that MAS is a heterogeneous disease. Some, but clearly not all, patients have oncogenic mutations of the gene coding for Gs alpha. Any gene acting down-stream of Gs can theoretically be predicted to result in the same phenotype. In addition, hyperthyroidism of MAS may be secondary to a TSH-producing pituitary macroadenoma.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |