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.