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"McCune-Albright Syndrome"

Liliya Rostomyan, Albert Beckers
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. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage...
October 12, 2016: Growth Hormone & IGF Research
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Grace Hennessy, Deepa Shetty, Han Loh, Chuong Bui, Ken Le, Robert Mansberg
A 33-year-old woman with McCune-Albright syndrome was referred for a Ga-DOTATATE PET/CT study for evaluation and staging of a biopsy-proven pancreatic tail neuroendocrine tumor. The scan demonstrated intense focal octreopeptide uptake corresponding to the known neuroendocrine tumor at the pancreatic tail/splenic hilum. There was no evidence of octreopeptide-avid metastases. Diffuse octreopeptide uptake was demonstrated in multiple bones involving the right side of the skeleton. The concurrent CT demonstrated corresponding expansile lucent changes consistent with the known fibrous dysplasia...
October 12, 2016: Clinical Nuclear Medicine
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies and café-au-lait patches. FD patients have been shown to respond favourably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Yasuhiro Ikawa, Yusuke Yachi, Natsumi Inoue, Akiko Kato, Michiko Okajima, Akihiro Yachie
No abstract text is available yet for this article.
August 31, 2016: Journal of Pediatrics
Christina Kanaka-Gantenbein, Christina Kogia, Mohamed Badawy Abdel-Naser, George P Chrousos
The human skin is a well-organized organ bearing different types of cells in a well-structured interference to each other including epidermal and follicular keratinocytes, sebocytes, melanocytes, dermal papilla cells and fibroblasts, endothelial cells, sweat gland cells as well as nerves. Several hormones act on different cell types of the skin, while it is also considered an endocrine organ secreting hormones that act at several sites of the organism. GH receptors are found in almost all cell types forming the skin, while IGF-1 receptors' expression is restricted to the epidermal keratinocytes...
August 30, 2016: Reviews in Endocrine & Metabolic Disorders
Andrea Estrada, Alison M Boyce, Beth A Brillante, Lori C Guthrie, Rachel I Gafni, Michael T Collins
OBJECTIVE: McCune-Albright syndrome (MAS) is a rare disorder with a broad spectrum including precocious puberty (PP) due to recurrent estrogen-secreting ovarian cysts. This study evaluates the long-term safety and efficacy of letrozole treatment in large cohort of girls with MAS-associated PP. DESIGN: Retrospective cohort analysis. METHODS: Clinical data, including history and physical examination, bone age, and pelvic ultrasounds, were reviewed on 28 letrozole-treated girls...
November 2016: European Journal of Endocrinology
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1)...
September 2016: Endocrine-related Cancer
Robert Krysiak, Karolina Kowalcze, Bogusław Okopień
Thyrotoxicosis is a pathological syndrome in which tissue is exposed to excessive amounts of circulating thyroid hormones. Including its subclinical form, it is considered as one of the most frequent endocrine disorders in the general population. If not detected in a timely fashion, thyrotoxicosis can have serious health consequences. The most common forms of thyrotoxicosis include diffuse toxic goiter (Graves' disease), toxic multinodular goiter (Plummer's disease), and toxic adenoma (Goetsch's disease). The significant progress in the fields of hormonal assessment, imaging procedures and molecular biology made in recent years has brought about great improvement in the identification, differentiation and treatment of many other disorders associated with thyrotoxicosis...
2016: Przegla̧d Lekarski
Maria Candida Barisson Villares Fragoso, Ingrid Quevedo Wanichi, Isadora Pontes Cavalcante, Beatriz Marinho de Paula Mariani
Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune-Albright syndrome (MAS) and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer, ovarian and testicular Leydig cell tumors, and primary macronodular adrenocortical hyperplasia (PMAH) (1-3). The involvement of gsp mutations in adrenal tumors was first described by Lyons et al. Since then, several studies have detected the presence of gsp mutations in adrenal tumors, but none of them could explain its presence along or the mechanism that leads to tumor formation and hormone hypersecretion...
2016: Frontiers in Endocrinology
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho, Dong-Kyu Jin
BACKGROUND: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. METHODS: Patients' clinical data-including peripheral PP, FD, and other endocrine problems-were reviewed retrospectively...
2016: Orphanet Journal of Rare Diseases
Ali Al Kaissi, Vladimir Kenis, Farid Ben Chehida, Jochen Hofstaetter, Franz Grill, Rudolf Ganger
BACKGROUND: The skeletal changes in McCune-Albright disease are usually severe because of the polyostotic form of the disease. Trendelenberg gait and limited mobility are the most common presenting features. The constellation of Café-au lait spots and polyostotic bone involvement is commonly referred to as McCune-Albright's syndrome (MAS). MATERIALS AND METHODS: One boy and 4 girls (7-16 years) were sought in our departments from 1998 to 2012. Limb length discrepancy was the main clinical presentation...
July 2016: African Journal of Paediatric Surgery: AJPS
Andrea Burke, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase, and elevated levels of cyclic AMP, which act on downstream signaling pathways, and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome)...
August 5, 2016: Oral Diseases
Cemre Robinson, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells...
October 2016: Current Osteoporosis Reports
Moushumi Lodh, Rajarshi Mukhopadhyay
BACKGROUND: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. CASE PRESENTATION: An eighteen-year-old female presented with amenorrhea. She had a short stature, round face, thick neck, and short fourth metacarpals and metatarsals...
July 2016: Journal of Reproduction & Infertility
Melinda Pierce, Brian Scottoline
McCune-Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gs α subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty...
July 13, 2016: American Journal of Medical Genetics. Part A
Johanna Benhamou, Deborah Gensburger, Claude Messiaen, Roland Chapurlat
Fibrous dysplasia of bone (FD) is a rare genetic but sporadic bone disease that can be responsible for bone pain, fracture, and bone deformity. The prognosis may be difficult to establish because of the wide spectrum of disease severity. We have analyzed the data from the French National Reference center for FD. We have established a database from standardized medical records. We have made descriptive statistics of the various forms of FD and examined the prognostic factors by multivariable logistic regression analysis, with a parsimonious stepwise method...
June 24, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Alison M Boyce, Andrea Burke, Carolee Cutler Peck, Craig R DuFresne, Janice S Lee, Michael T Collins
BACKGROUND: The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort. METHODS: One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated. Radiographic studies, operative reports, and clinical records were reviewed...
June 2016: Plastic and Reconstructive Surgery
Kamran Urgun, Baran Yılmaz, Zafer Orkun Toktaş, Akın Akakın, Deniz Konya, Mustafa Kemal Demir, Türker Kılıç
Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Here, we report concomitant, double ABCs in bilateral occipital regions and FD from the skull base to the C2 vertebra with Chiari type 1 malformation. A 14-year-old female with a diagnosis of McCune-Albright syndrome presented with swellings at the back of her head...
2016: Pediatric Neurosurgery
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