Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1

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...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2014-04, Vol.133 (4), p.e1082-e1086
Main Authors: Baiocchi, Michela, Yousuf, Fatimah Sireen, Hussain, Khalid
Format: Article
Language:English
Subjects:
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann Syndrome - complications
Beckwith-Wiedemann Syndrome - metabolism
Child, Preschool
Chromosomes
Complications and side effects
Follow-Up Studies
Genetic disorders
Genetic testing
Hormones
Humans
Hypopituitarism
Hypopituitarism - etiology
Hypothyroidism
Infant, Newborn
Methylation
Pediatrics
Potassium Channels, Voltage-Gated - metabolism
Risk factors
Velocity
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Summary: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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2013-1596