1/32. Imaging of McCune-Albright syndrome using bone single photon emission computed tomography.McCune-Albright syndrome is a rare disorder caused by a somatic, constitutively activating mutation in the gene (GNAS1) encoding the subunit of the signal transducing guanine nucleotide binding protein (G protein). The condition is characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation and multiple endocrine hyperfunction, most commonly gonadotropin-independent precocious puberty in girls. Our patient, a 16-year-old male, with radiologically confirmed polyostotic fibrous dysplasia in cranium, thoracic and pelvic girdles, spine and extremities was studied using planar 99mTc-hydroxymethyldiphosphonate bone scintigraphy and single photon emission computed tomography. Using bone scintigraphy, an unusually extensive and asymmetric fibrous dysplasia was observed in the cranium, face, ribs, femur, humerus, ulna, tibia and the vertebral column, all on the left side. The whole body scan revealed only a few foci on the right side. Single photon emission computed tomography demonstrated extensive unilateral involvement in the base of the skull, facial bones, maxilla and mandible. All the lesions reached only the midline. These findings formed the basis of further treatment, eg. reconstructive surgery of facial asymmetry. CONCLUSION: McCune-Albright syndrome should be considered in the differential diagnosis when interpreting extensive unilateral predominance in paediatric bone scans.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/32. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses.We report a 19-year old female patient with the McCune-Albright syndrome, which is a rare disease consisting of polyostotic fibrous dysplasia (FD) of bone associated with brown pigmented areas of the skin and several endocrine dysfunctions. The patient had FD involving the paranasal sinuses, the middle turbinate and the skull. The endocrine dysfunction of the patient concerns both growth hormone and prolactin hypersecretion. Because the patient had no major symptoms, neither surgical nor medical treatment was applied. Five-year follow-up revealed no complication and enlargement of the lesion.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
3/32. 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 = endocrine (Clic here for more details about this article) |
4/32. "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 = endocrine (Clic here for more details about this article) |
5/32. Macroorchidism due to autonomous hyperfunction of sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.We report an unusual observation of a 3.8-yr-old boy with McCune-Albright syndrome (MAS) associated with abnormal prepubertal testis enlargement and no sexual precocity. physical examination showed cafe-au-lait skin lesions, enlarged testes, prepubertal sized penis, and no pubic or axillary hair. Skeletal radiography disclosed fibrous dysplasia. The serum testosterone level was 0.58 nmol/L and remained below 1.4 nmol/L during the 4-yr follow-up. By contrast, serum inhibin B and anti-mullerian hormone concentrations were abnormally increased up to 255 pg/mL (childhood range, 35--180) and 792 pmol/L (childhood range, 309--566), respectively. The LH response to a GnRH test was in the prepubertal range, whereas the FSH response was blunted. This abnormal hormone concentration profile indicates autonomous hyperfunction of sertoli cells, with no evidence of Leydig cell activation. Testicular histology showed tubules with marked Sertoli cell hyperplasia and very rare germinal cells, and interstitial tissue containing mesenchymal cells but no mature leydig cells. dna sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in replacement of Arg by His at codon 201 of the G(s)alpha protein. Other endocrine tests showed excessive GH secretion and moderate adrenal androgen hypersecretion. These findings are consistent with the occurrence of an activating mutation of the G(s)alpha gene mainly expressed in sertoli cells and weakly expressed or absent in leydig cells. Abnormal prepubertal testicular enlargement extends the clinical spectrum of MAS, suggesting that determination of serum inhibin B and anti-mullerian hormone should be considered in boys with this syndrome. This observation demonstrates the usefulness of detailed molecular and biological investigations in atypical cases of MAS.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/32. McCune Albright syndrome (MCAS): a case series.McCune Albright syndrome (MCAS) is an association of, Cafe-au-lait macules, polyostotic fibrous dysplasia and autonomous hyperfunctioning endocrinopathy. This is a rare disorder seen more commonly in females. We evaluated 7 (6F & 1M) cases under six years of age (4 months to 5.5 yrs) presenting with cafe-au-lait spots, polyostotic fibrous dysplasia and/or sexual precocity. All the 7 cases had large cafe-au-lait spots, radiologic features of polyostotic fibrous dysplasia were seen in 5 cases. Six girls had precocious puberty with large ovarian follicles and elevated S. estradiol levels (14-65 pg/dl) with prepubertal gonadotropin levels in 5 of them. Medroxy-progrestrone acetate was used to treat the sexual precocity. Five girls on follow up for 6 months (6mo-16mo) showed cessation of menstrual episodes and regression of ovarian follicles in three, regression in breast size in one, and three girls continued to grow at a height velocity >95th centile for age. Skeletal lesions and skin features did not show any change. No other endocrinopathy was noted. Gonadotropin independent precocious puberty was the only endocrine affection seen in this series.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
7/32. Use of a retrograde femoral nail in a patient with McCune-Albright syndrome.McCune-Albright syndrome is a rare condition characterized by endocrine abnormalities, precocious puberty, pigmented skin lesions and polyostotic fibrous dysplasia with consequent fractures and limb deformity. patients with this syndrome might have had multiple operations on a limb and might also have extensive internal fixation in-situ. We review the case of a 41-year-old woman with McCune-Albright syndrome, who presented with a pathological fracture of her left femur below a long plate and screws. Our management of this challenging problem included the use of a retrograde femoral nail, which, because of the need to retain pre-existing internal fixation, had to be locked proximally through a hole in a femoral plate. This technique, combined with reaming, and thus bone grafting of the fracture, and also perioperative infusions of pamidronate, allowed an early recovery and return to premorbid function for the patient. In the present study we detail our technique and discuss its advantages over other possible methods of treatment.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
8/32. acromegaly with fibrous dysplasia: McCune-Albright syndrome -- clinical studies in 3 cases and brief review of literature--.The McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, cafe-au-lait macules and hyperfunctioning endocrinopathies including growth hormone (GH) excess. Polyostotic bone lesions and cafe-au-lait macules are common while monostotic bone lesions are rare. Similarly, acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon and in most of the instances somatotropinoma has not been documented. We report 3 patients, two of them had monostotic lesion, none had cafe-au-lait macules and all had GH secreting pituitary macroadenoma. All of them underwent transfrontal pituitary adenomectomy and had histopathological confirmation of GH secreting pituitary adenoma. A brief review of literature is also presented.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
9/32. McCune-Albright syndrome associated with pituitary microadenoma: patient report.McCune-Albright syndrome (MAS) is a rare disorder characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and cafe-au-lait spots. Additional endocrine abnormalities may also be present, including hyperthyroidism, growth hormone excess and hyperprolactinemia. The most commonly encountered endocrine dysfunction is gonadal hyperfunction. Gonadotropin-independent precocious puberty is typically the initial manifestation of MAS in girls. ovarian cysts may be detected on pelvic ultrasound. Our patient was also found to have pituitary microadenoma, evidenced by dynamic magnetic resonance imaging.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
10/32. Ductal carcinoma in situ in a 27-year-old woman with McCune-Albright syndrome.McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the triad of irregularly edged hyperpigmented macules (cafe au lait spots); a slowly progressive bone disorder, polyostotic fibrous dysplasia, usually involving the base of the skull and the long bones; and luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty. This case is the first report of a 27-year-old woman with ductal carcinoma in situ (DCIS) and Paget's disease of the nipple associated with MAS. The discussion focuses on two endocrine manifestations of this syndrome including precocious puberty and excess growth hormone secretion. In our patient, both her early puberty and pituitary adenoma, in association with MAS, resulted in excess production and secretion of estrogen and growth hormone. Both of these hormones function to stimulate breast growth and development. We hypothesize they are responsible for this patient's DCIS and Paget's disease of the nipple so early in life.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
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