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Special Unit for Metabolic Diseases

Home/Special Unit for Metabolic Diseases

Special Unit for Metabolic Diseasesadmin2022-03-15T11:19:35+02:00

Special Unit for Metabolic Diseases

(Ground floor)

NSS Director

Evangelia Lykopoulou

1st Pediatric Clinic of the University of Athens

“Agia Sofia” Children’s Hospital

Thebes and Levadia, 115 27, Goudi
Tel: 210 7467129 – 210 74677130
Fax: 210 7759167

Created by : Zita Medical Management

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Κληρονομικό φαιοχρωμοκύτωμα-παραγαγγλίωμα

Plouin PF, Amar L, Dekkers OM, et al European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. doi: 10.1530/EJE-16-0033. PMID: 27048283.
Lenders JW, Duh QY, Eisenhofer G, et al Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. doi: 10.1210/jc.2014-1498.
Wong MY, Andrews KA, Challis BG, et al. Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers. doi: 10.1111/cen.13926

Σύνδρομο Turner

Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, et al Clinical practice guidelines for the care of girls and women with Turner syndrome doi: 10.1093/ejendo/lvae050
Gravholt CH, Andersen NH, Conway GS, et al Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. doi: 10.1530/EJE-17-0430

Διαταραχές Ανάπτυξης Φύλου (DSD)

Cools M, Nordenström A, Robeva R, et al Caring for individuals with a difference of sex development (DSD): a Consensus Statement. doi: 10.1038/s41574-018-0010-8
Hughes IA, Houk C, Ahmed SF, et al Consensus statement on management of intersex disorders. doi: 10.1016/j.jpurol.2006.03.004
Nordenström A, Ahmed SF, van den Akker E, et al Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline doi: 10.1530/EJE-22-0073

Σύνδρομο Cushing

Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing’s syndrome: an Endocrine Society Clinical Practice Guideline. doi: 10.1210/jc.2008-0125
Nieman LK, Biller BM, Findling JW, et al Treatment of Cushing’s Syndrome: An Endocrine Society Clinical Practice Guideline. doi: 10.1210/jc.2015-1818

Ακρομεγαλία

Katznelson L, Laws ER Jr, Melmed S, et al Acromegaly: an endocrine society clinical practice guideline. doi: 10.1210/jc.2014-2700
Giustina A, Barkan A, Casanueva FF, et al Criteria for cure of acromegaly: a consensus statement. doi: 10.1210/jcem.85.2.6363

Σύνδρομο Prader Willi and Prader Willi-like σύνδρομο

Goldstone AP, Holland AJ, Hauffa BP, et al Recommendations for the diagnosis and management of Prader-Willi syndrome. doi: 10.1210/jc.2008-0649.
Erratum in: J Clin Endocrinol Metab. 2010 Dec;95(12):5465. PMID: 18697869
Deal CL, Tony M, Höybye C, et al Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. doi: 10.1210/jc.2012-3888

αχονδροπλασία

Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS. Health Supervision for People With Achondroplasia. doi: 10.1542/peds.2020-1010. το οποίο αντιστοιχεί στο 7.AAP guidelines for Achondroplasia
Savarirayan R, Ireland P, Irving M, et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. doi: 10.1038/s41574-021-00595-x. το οποίο αντιστοιχεί στο 8.International Consensus Statement Achondroplasia

Υποφωσφαταιμία , Χ-φυλοσύνδετη υποφωσφαταιμία

Padidela R, Cheung MS, Saraff V, Dharmaraj P. Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations. doi: 10.1530/EC-20-0291. το οποίο αντιστοιχεί στο 1.Burosumab BPABG guidelines 2020
Trombetti A, Al-Daghri N, Brandi ML, et al. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. doi: 10.1038/s41574-022-00662-x. το οποίο αντιστοιχεί στο 2.COnsensus on XLH hypophosphataemia
Sandy JL, Simm PJ, Biggin A, et al. Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab. doi: 10.1111/jpc.15976. το οποίο αντιστοιχεί στο 3.Clinical practice guidelines for paediatric X-linked

Καρκίνος Θυρεοειδούς

1.Lebbink CA, Links TP, Czarniecka A et al 2022 European Thyroid
Association Guidelines for the management of pediatric thyroid nodules and
differentiated thyroid carcinoma. doi: 10.1530/ETJ-22-0146.

2. Francis GL, Waguespack SG, Bauer AJ, et al. Management Guidelines for
Children with Thyroid Nodules and Differentiated Thyroid Cancer.
doi:10.1089/thy.2014.0460.

Σύνδρομο Cushing

1) Nieman LK, Biller BM, Findling JW et al. The diagnosis of Cushing’s
syndrome: an Endocrine Society Clinical Practice Guideline. J Clin
Endocrinol Metab. 2008 May;93(5):1526-40. doi: 10.1210/jc.2008-0125. Epub
2008 Mar 11. PMID: 18334580; PMCID: PMC2386281.

2)Nieman LK, Biller BM, Findling JW et al. Treatment of Cushing’s
Syndrome: An Endocrine Society Clinical Practice Guideline. J Clin
Endocrinol Metab. 2015 Aug;100(8):2807-31. doi: 10.1210/jc.2015-1818. Epub
2015 Jul 29. PMID: 26222757; PMCID: PMC4525003.

Επινεφριδιακή Ανεπάρκεια και Συγγενής Υπερπλασία Επινεφριδίων

1)Mushtaq T, Ali SR, Boulos N et al. Emergency and perioperative
management of adrenal insufficiency in children and young people: British
Society for Paediatric Endocrinology and Diabetes consensus guidance. Arch
Dis Child. 2023 Nov;108(11):871-878. doi:
10.1136/archdischild-2022-325156.

2) Speiser PW, Arlt W, Auchus RJ et al Congenital Adrenal Hyperplasia Due
to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical
Practice Guideline doi: 10.1210/jc.2018-02371.

3)Woodcock T, Barker P, Daniel S et al Guidelines for the management of
glucocorticoids during the peri-operative period for patients with adrenal
insufficiency: Guidelines from the Association of Anaesthetists, the Royal
College of Physicians and the Society for Endocrinology UK. doi:
10.1111/anae.14963.

4)Bornstein SR, Allolio B, Arlt W et al. Diagnosis and Treatment of
Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice
Guideline. doi: 10.1210/jc.2015-1710.