{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T13:36:58Z","timestamp":1746711418094,"version":"3.40.5"},"reference-count":26,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,4,1]]},"abstract":"<jats:p>Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.<\/jats:p>","DOI":"10.1542\/peds.2013-1596","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T00:45:52Z","timestamp":1395103552000},"page":"e1082-e1086","source":"Crossref","is-referenced-by-count":2,"title":["Hypopituitarism in a Patient With Beckwith-Wiedemann Syndrome Due to Hypomethylation of KvDMR1"],"prefix":"10.1542","volume":"133","author":[{"given":"Michela","family":"Baiocchi","sequence":"first","affiliation":[{"name":"Pediatrics Clinic of Brescia, Brescia, Italy;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatimah Sireen","family":"Yousuf","sequence":"additional","affiliation":[{"name":"Aga Khan University Hospital, Karachi, Pakistan;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; and"},{"name":"United Kingdom Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, The Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2014,4,1]]},"reference":[{"key":"2021120903180532500_B1"},{"key":"2021120903180532500_B2","doi-asserted-by":"crossref","first-page":"43R","DOI":"10.1203\/pdr.0b013e3180457660","article-title":"Growth regulation, imprinted genes, and chromosome 11p15.5.","volume":"61","author":"Smith","year":"2007","journal-title":"Pediatr Res"},{"issue":"10","key":"2021120903180532500_B3","first-page":"E640","article-title":"Beckwith Wiedemann syndrome: presentation of a case report.","volume":"13","author":"Narea Matamala","year":"2008","journal-title":"Med Oral Patol Oral Cir Bucal"},{"issue":"3","key":"2021120903180532500_B4","first-page":"149","article-title":"Genetic analysis of tall stature.","volume":"64","author":"Kant","year":"2005","journal-title":"Horm Res"},{"issue":"1","key":"2021120903180532500_B5","first-page":"7","article-title":"Elevated maternal serum \u03b1-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.","volume":"6","author":"Guanciali-Franchi","year":"2012","journal-title":"J Prenat Med"},{"volume-title":"Online Mendelian Inheritance in Man. 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