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    Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube.
    Molecules 2017 Nov 1;22(11). Epub 2017 Nov 1.
    Molecular Medicine Research Center, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan.
    McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS/FD. Read More

    Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome.
    Osteoporos Int 2017 Oct 25. Epub 2017 Oct 25.
    Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
    In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism. Read More

    Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia.
    Calcif Tissue Int 2017 Oct 11. Epub 2017 Oct 11.
    Division Endocrinology, Department of Medicine, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
    Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Read More

    Natural history of cranial fibrous dysplasia revealed during long-term follow-up: Case report and literature review.
    Surg Neurol Int 2017 6;8:209. Epub 2017 Sep 6.
    Department of Neurological Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Background: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. Read More

    Acromegaly with hypophosphataemia: McCune-Albright syndrome.
    BMJ Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.
    Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. Read More

    Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia.
    J Bone Miner Res 2017 Aug 30. Epub 2017 Aug 30.
    Department of Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
    Fibrous dysplasia (FD) is a rare bone disorder caused by mutations of the GNAS gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the United States. Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital records of 134 (Netherlands) and 121 (US) female patients. Read More

    Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.
    Acta Biomed 2017 Aug 23;88(2):198-200. Epub 2017 Aug 23.
    Gaetano Pini-CTO, Milano.
    Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. Read More

    18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia.
    Clin Nucl Med 2017 Oct;42(10):e454-e456
    From the Departments of *Orthopaedic Surgery, and †Radiology, Fukushima Medical University School of Medicine; and ‡Fukushima Pathology Laboratory, Fukushima, Japan.
    Fibrous dysplasia rarely transforms into a secondary malignancy. We present the PET/CT findings at pretreatment and posttreatment in an exceedingly rare case of epithelioid angiosarcoma of the bone secondary to polyostotic fibrous dysplasia. Read More

    GNAS Mutations: Drivers or Co-Pilots? Yet, Promising Diagnostic Biomarkers.
    Trends Cancer 2016 Jun 1;2(6):282-285. Epub 2016 Jun 1.
    Laboratory of Translational Surgery, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics. University of Verona, Verona, Italy. Electronic address:
    Over 25 years ago, GNAS mutations were discovered associated with McCune-Albright syndrome (MAS) and pituitary tumors. The mutant gene, encoding the heterotrimeric Gs protein, was named 'derived from Gs Protein' (gsp) oncogene. For a long time, gsp remained associated with specific endocrine tumors. Read More

    Long-term health outcomes of adults with McCune-Albright syndrome.
    Clin Endocrinol (Oxf) 2017 Nov 8;87(5):627-634. Epub 2017 Aug 8.
    Department of Endocrinology, The Royal Children's Hospital, Melbourne, VIC, Australia.
    Context: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature.

    Objective: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years). Read More

    Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain.
    Case Rep Endocrinol 2017 6;2017:7898713. Epub 2017 Jun 6.
    Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS, Brazil.
    McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. Read More

    Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome.
    Skeletal Radiol 2017 Jun 28. Epub 2017 Jun 28.
    Dental Physical Sciences, Queen Mary University of London, London, E1 4NS, UK.
    Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Read More

    Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome.
    J Pediatr Pharmacol Ther 2017 May-Jun;22(3):233-236
    Infantile Cushing syndrome is an infrequent yet potentially fatal manifestation of McCune-Albright syndrome, for which there are few safe treatments available. Ketoconazole is limited by potential hepatotoxicity in this population. Metyrapone may be an effective treatment, but it may not be tolerated when given orally. Read More

    Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.
    Sci Rep 2017 Jun 6;7(1):2836. Epub 2017 Jun 6.
    Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
    Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. Read More

    Pachydermoperiostosis: a rare mimicker of acromegaly.
    Endocrinol Diabetes Metab Case Rep 2017 16;2017. Epub 2017 May 16.
    Endocrinology Unit, Department of Medicine, Putrajaya Hospital, PutrajayaMalaysia.
    Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. Read More

    Image Findings of Polyostotic Fibrous Dysplasia Mimicking Metastasis in F-18 FDG Positron Emission Tomography/Computed Tomography.
    Indian J Nucl Med 2017 Apr-Jun;32(2):137-139
    Department of Nuclear Medicine and PET/CT, Comprehensive Cancer Care Center, Kovai Medical Center and Hospital Limited, Coimbatore, India.
    Fibrous dysplasia (FD) of the bone is characterized by the medullary cavity of bones becoming filled with fibrous tissue, and its etiology remains unknown. It is usually asymptomatic and found incidentally on imaging studies that are performed for other purposes. FD may closely mimic the appearance of bony metastatic disease on radiological examinations. Read More

    Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome.
    Horm Res Paediatr 2017 19;88(3-4):285-290. Epub 2017 May 19.
    Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.
    Background: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS. Read More

    Determinants of impaired quality of life in patients with fibrous dysplasia.
    Orphanet J Rare Dis 2017 Apr 27;12(1):80. Epub 2017 Apr 27.
    Department of Medicine: Division Endocrinology, Center for Bone Quality Leiden University Medical Center, Albinusdreef 2, Postzone J11, PO Box 9600, 2300 RC, Leiden, The Netherlands.
    Background: Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were compared with those of the general Dutch population. Read More

    Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note.
    J Child Orthop 2017 ;11(1):64-70
    Department of Paediatric Orthopaedics, The Royal Children's Hospital, Victoria, Australia.
    Aims: The severe form of coxa vara, the 'shepherd's crook deformity', is always a consequence of a locally extensive form of polyostotic fibrous dysplasia (or McCune-Albright syndrome). Treatment of this deformity is a challenge. The soft bone does not tolerate any implant that depends on the stability of the cortical bone (like plates or external fixators). Read More

    Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study.
    Open Med (Wars) 2016 16;11(1):465-470. Epub 2016 Nov 16.
    Chair of Dental Surgery, Department of Cranio-Maxillofacial Surgery and Oral Surgery, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Poland.
    McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient's facial and oral tissue and the treatment administered have been described. Read More

    Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome
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    Horm Res Paediatr 2017 23;87(5):342-349. Epub 2017 Mar 23.
    Department of Public Health and Pediatric Sciences, University of Turin, Regina Margherita Children's Hospital-AOU Città della Salute e della Scienza, Turin, Italy.
    Background/aim: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. Read More

    Craniofacial fibrous dysplasia: A 10-case series.
    Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep 14;134(4):229-235. Epub 2017 Mar 14.
    Université Clermont Auvergne, CHU Clermont-Ferrand, Service de Médecine Interne, Hôpital Gabriel Montpied, Inserm U1071, INRA USC2018, M2iSH, 63000 Clermont-Ferrand, France. Electronic address:
    Objectives: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Read More

    Giant parathyroid adenoma associated with severe hypercalcemia in an adolescent patient.
    J Pediatr Endocrinol Metab 2017 May;30(5):587-592
    Department of General Surgery, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul.
    Background: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia.

    Case: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Read More

    Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.
    Arch Osteoporos 2017 Dec 27;12(1):21. Epub 2017 Feb 27.
    NIHR Musculoskeletal Biomedical Research Unit, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Nuffield Orthopaedic Centre, Windmill Road, Oxford, OX3 7LD, UK.
    To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. Read More

    Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature.
    Indian J Nucl Med 2017 Jan-Mar;32(1):25-29
    Department of Nuclear Medicine, SGPGIMS, Lucknow, Uttar Pradesh, India.
    The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Read More

    [Mazabraud and McCune-Albright syndromes in association : A case of two very rare orthopaedic tumour entities].
    Orthopade 2017 Feb 21. Epub 2017 Feb 21.
    Zentrum für Orthopädie und Unfallchirurgie, Universitätsklinikum Heidelberg, Schlierbacher Landstr. 200a, 69118, Heidelberg, Deutschland.
    We report on a 47-year-old woman with unilateral fibrous dysplasia and three intramuscular masses. Medical imaging revealed possible intramuscular myxomas, so that the suspected diagnosis was Mazabraud syndrome. After biopsy, the suspected diagnosis was verified by histology and molecular pathology. Read More

    Mucinous Cystadenoma in Children and Adolescents.
    J Pediatr Adolesc Gynecol 2017 Aug 16;30(4):495-498. Epub 2017 Feb 16.
    Children's National Medical Center, MedStar Washington Hospital Center, Washington, DC.
    Study Objective: Mucinous cystadenomas (MCAs) are benign epithelial ovarian tumors that occur rarely in children and adolescents. Because children and adolescents typically have their childbearing years ahead of them, conservative therapy is indicated. However, there is concern that ovarian cystectomy might be associated with significant recurrence risk in patients with MCA. Read More

    Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.
    Virchows Arch 2017 Apr 10;470(4):391-400. Epub 2017 Feb 10.
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations. Somatic activating GNAS mutations also commonly occur in several gastrointestinal and pancreatic neoplasms, but the spectrum of abnormalities in these organs in patients with MAS has yet to be systematically described. We report comprehensive characterization of the upper gastrointestinal tract in seven patients with MAS and identify several different types of polyps, including gastric heterotopia/metaplasia (7/7), gastric hyperplastic polyps (5/7), fundic gland polyps (2/7), and a hamartomatous polyp (1/7). Read More

    Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma.
    Case Rep Dent 2016 22;2016:6439026. Epub 2016 Dec 22.
    Department of Oral Medicine and Radiology, AJ Institute of Dental Sciences, Mangalore, Karnataka, India.
    Fibrous dysplasia (FD) is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type) or multiple bones (polyostotic type). It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. Read More

    Monostotic fibrous dysplasia of the metacarpal: a case report.
    Rev Bras Ortop 2016 Nov-Dec;51(6):730-734. Epub 2016 Oct 26.
    Hospital Sarah Brasília, Cirurgia Plástica e Cirurgia de Mão, Brasília, DF, Brazil.
    Fibrous dysplasia is a bone disease characterized by abnormal differentiation of fibrous tissue in the bones; it is often asymptomatic. It may affect one bone (monostotic) or several bones (polyostotic). The monostotic form primarily affects the ribs, but hardly ever affects the hand. Read More

    Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome.
    Eur J Endocrinol 2017 Mar 22;176(3):295-303. Epub 2016 Dec 22.
    Key Laboratory of Endocrinology of National Health and Family Planning CommissionDepartment of Endocrinology
    Objective: McCune-Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS and analyze the responses of these patients to treatments. Read More

    Orbitocranial Fibrous Dysplasia: Outcome of Radical Resection and Immediate Reconstruction With Titanium Mesh and Pericranial Flap.
    J Craniofac Surg 2016 Nov;27(8):e719-e723
    *Neurosurgery Department†Maxillofacial Surgery Unit, Faculty of Medicine, Sohag University, Sohag, Egypt.
    Introduction: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Read More

    Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia.
    J Craniofac Surg 2017 Jan;28(1):21-25
    Cranio-maxillo-facial Surgery Department, Plastic Surgery Hospital of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
    Background: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons.

    Methods: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Read More

    Craniofacial Fibrous Dysplasia: Retrospective Study on the Relationship Between the Tumor Volume Changes and the Circulating Serum Calcitonin and Serum Alkaline Phosphatase.
    Ann Plast Surg 2017 Mar;78(3):289-293
    From the *Plastic and Reconstructive Surgery Department, Cairo University, Cairo, Egypt; †Plastic and Reconstructive Surgery Department, Institute of Human Tissue Restoration, ‡Department of Medical Biostatistics, Yonsei Colleague of Medicine, and §Plastic and Reconstructive Surgery Department, Institute of Human Tissue Restoration, Yonsei University, Seoul, Republic of Korea.
    Background: The purpose of this study was to determine the usefulness of serum alkaline phosphatase (ALP) and calcitonin in the follow-up of tumor volume changes in patients with craniofacial fibrous dysplasia.

    Methods: Twenty patients with isolated craniofacial fibrous dysplasia were included, who met our criteria for long-term follow-up. Three-dimensional computed tomography scans were obtained, and tumor segmentation was performed. Read More

    Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
    Orphanet J Rare Dis 2016 11 28;11(1):160. Epub 2016 Nov 28.
    Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
    Background: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease.

    Results: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. Read More

    McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.
    Clujul Med 2016 20;89(4):559-564. Epub 2016 Oct 20.
    Department of Radiology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
    McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. Read More

    A unique case of multiple non-ossifying fibromas with polyostotic monomelic distribution and aggressive clinical course.
    Skeletal Radiol 2017 Feb 8;46(2):233-236. Epub 2016 Nov 8.
    Department of Orthopaedic Surgery, Aghia Sofia Children's Hospital, Athens, Greece.
    Multiple non-ossifying fibromas (MNOFs) occur either isolated or in association with other anomalies, are usually localized in the long bones of the lower limbs, may be radiographically confused with other skeletal lesions, and tend to heal spontaneously with the completion of the skeletal growth. Segmental distribution, either monomelic or polymelic and ipsilateral, is rare and commonly observed in the context of developmental diseases known as "RASopathies", which are caused by mutations in genes that encode components or regulators within the Ras/mitogen-activated protein kinase signaling pathway. We describe here the radiographic and pathologic features of an 18-year-old Caucasian boy, whose clinical history started at the age of 3 when the diagnosis of aneurysmal bone cyst was made on a lytic lesion of his left clavicle. Read More

    Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.
    Int J Pediatr Endocrinol 2016 28;2016:20. Epub 2016 Oct 28.
    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina ; Departamento de Biología Celular, Histología, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
    In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Read More

    Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report.
    J Oral Maxillofac Surg 2016 Nov 21;74(11):2229.e1-2229.e4. Epub 2016 Jun 21.
    Department Chair, Division Chief, and Associate Professor, Department of Oral and Maxillofacial Surgery, Case Western Reserve University and University Hospitals/Case Medical Center, Cleveland, OH. Electronic address:
    Fibrous dysplasia (FD) is a benign fibro-osseous lesion that typically behaves as a painless, slowly expanding tumor. On rare occasion, FD will undergo malignant transformation. When sarcomatous change occurs, osteosarcoma is the typical variant, followed by chondrosarcoma and fibrosarcoma. Read More

    Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty.
    Ann Pediatr Endocrinol Metab 2016 Sep 30;21(3):136-142. Epub 2016 Sep 30.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
    Purpose: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP).

    Methods: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015. Patients with congenital adrenal hyperplasia were excluded. Read More

    Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression.
    Hum Pathol 2017 Apr 19;62:170-174. Epub 2016 Oct 19.
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905.
    Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in less than 1% of all FD cases, and has been described in both monostotic and polyostotic forms of this entity. We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Read More

    Fibrous dysplasia. Clinical review and therapeutic management.
    Med Clin (Barc) 2016 Dec 17;147(12):547-553. Epub 2016 Oct 17.
    Servicio de Reumatología, Hospital Clínic, Universidad de Barcelona, Barcelona, España.
    Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches. Read More

    Screening for genetic causes of growth hormone hypersecretion.
    Growth Horm IGF Res 2016 Oct - Dec;30-31:52-57. Epub 2016 Oct 12.
    Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium. Electronic address:
    Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. Read More

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