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Albrights syndrome

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https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#1
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#2
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
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. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#3
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
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). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28243882/improving-patient-outcomes-in-fibrous-dysplasia-mccune-albright-syndrome-an-international-multidisciplinary-workshop-to-inform-an-international-partnership
#4
A M Boyce, A Turner, L Watts, L Forestier-Zhang, A Underhill, R Pinedo-Villanueva, F Monsell, D Tessaris, C Burren, L Masi, N Hamdy, M L Brandi, R Chapurlat, M T Collins, Muhammad Kassim Javaid
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. PURPOSE: The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28242980/hypothyroidism-in-mccune-albright-syndrome-and-role-of-bone-scan-in-management-of-fibrous-dysplasia-an-unusual-case-scenario-with-review-of-literature
#5
Narvesh Kumar, Subhash Chand Kheruka, Rani Kunti R Singh, Mudalsha Ravina, Deepanksha Dutta, Sanjay Gambhir
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...
January 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28224215/-mazabraud-and-mccune-albright-syndromes-in-association-a-case-of-two-very-rare-orthopaedic-tumour-entities
#6
M Schwarze, M-A Weber, G Mechtersheimer, B Lehner, E K Renker
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. Due to endocrine abnormalities in the patient's medical history, McCune-Albright syndrome has was also verified.
February 21, 2017: Der Orthopäde
https://www.readbyqxmd.com/read/28219176/-mccune-albright-syndrome-with-initial-symtom-of-mandibular-neoplasms-a-case-report
#7
W J Liu, L G Gong, C M Tan, Q Y Li, Y Z Ma
No abstract text is available yet for this article.
February 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28216128/mucinous-cystadenoma-in-children-and-adolescents
#8
Renee A Cowan, Erin N Haber, Fabio R Faucz, Constantine A Stratakis, Veronica Gomez-Lobo
STUDY OBJECTIVE: Mucinous cystadenomas (MCAs) are benign epithelial ovarian tumors that occur rarely in children and adolescents. As children and adolescents typically have their childbearing years ahead of them, conservative therapy is indicated. However, there is concern that ovarian cystectomy may be associated with significant recurrence risk in MCA. Furthermore, GNAS gene mutations are associated with McCune-Albright Syndrome, which is associated with cystic ovaries. We sought to evaluate the outcomes of children and adolescents with MCA treated conservatively...
February 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28213373/cost-effectiveness-of-the-2014-u-s-preventive-services-task-force-uspstf-recommendations-for-intensive-behavioral-counseling-interventions-for-adults-with-cardiovascular-risk-factors
#9
Ji Lin, Xiaohui Zhuo, Barbara Bardenheier, Deborah B Rolka, W Edward Gregg, Yuling Hong, Guijing Wang, Ann Albright, Ping Zhang
OBJECTIVE: In 2014, the U.S. Preventive Services Task Force (USPSTF) recommended behavioral counseling interventions for overweight or obese adults with the following known cardiovascular disease risk factors: impaired fasting glucose (IFG), hypertension, dyslipidemia, or metabolic syndrome. We assessed the long-term cost-effectiveness (CE) of implementing the recommended interventions in the U.S. RESEARCH DESIGN AND METHODS: We used a disease progression model to simulate the 25-year CE of the USPSTF recommendation for eligible U...
February 17, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28188442/patients-with-mccune-albright-syndrome-have-a-broad-spectrum-of-abnormalities-in-the-gastrointestinal-tract-and-pancreas
#10
Laura D Wood, Michaël Noë, Wenzel Hackeng, Lodewijk A A Brosens, Feriyl Bhaijee, Marija Debeljak, Jun Yu, Masaya Suenaga, Aatur D Singhi, Atif Zaheer, Alison Boyce, Cemre Robinson, James R Eshleman, Michael G Goggins, Ralph H Hruban, Michael T Collins, Anne Marie Lennon, Elizabeth A Montgomery
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)...
April 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28007843/clinical-characteristics-and-management-of-growth-hormone-excess-in-patients-with-mccune-albright-syndrome
#11
Yong Yao, Yang Liu, Linjie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen, Huijuan Zhu
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. DESIGN: Retrospective clinical study. METHODS: Clinical data from 52 MAS patients were analyzed...
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27995443/pseudohypoparathyroidism-one-gene-several-syndromes
#12
REVIEW
O Tafaj, H Jüppner
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia...
April 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27922965/prevalence-of-different-forms-and-involved-bones-of-craniofacial-fibrous-dysplasia
#13
Liya Yang, Huanhuan Wu, Jianjian Lu, Li Teng
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. Data extracted from the previously published literature were analyzed with STATA 11...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27897024/-peripheral-precocious-puberty
#14
J Zvonařová Skalická, R Pilka
OBJECTIVE: To summarize literature data on peripheral precocious puberty. DESIGN: A literature review. SETTING: Středomoravská nemocniční a.s., hospital Šternberk, Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacky University, Olomouc. METHODS AND RESULTS: We searched in PubMed using the key words stated below according to date and published since 1980.Peripheral precocious puberty occurs in girls with the frequency 1:400-1000...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27875418/nonclassic-features-of-pseudohypoparathyroidism-type-1a
#15
Ashley H Shoemaker, Harald Jüppner
PURPOSE OF REVIEW: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype. RECENT FINDINGS: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia...
February 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#16
Iulian Raus, Roxana Elena Coroiu
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...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27813477/-genes-in-the-camp-pathway-causing-skeletal-dysplasia-with-or-without-hormonal-resistance
#17
REVIEW
Caroline Silve
Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a...
2016: Biologie Aujourd'hui
https://www.readbyqxmd.com/read/27803541/mccune-albright-syndrome-from-gynaecological-perspective
#18
A Mishra, R Purvar, S Malik, K Agarwal, R Gera, S Sridhar
No abstract text is available yet for this article.
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#19
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
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. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27777905/etiology-and-therapeutic-outcomes-of-children-with-gonadotropin-independent-precocious-puberty
#20
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
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...
September 2016: Annals of Pediatric Endocrinology & Metabolism
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