Endocrine Abstracts

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of ocular coloboma, heart defects, atresia of the choanae, retardation of growth and development, and genitourinary and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitarism due to structural abnormalities of the pituitary gland.

Case presentation: The patient was a boy born with IUGR (birth weight 2020 gr, 37 weeks’ gestation). Clinical features included retinal coloboma and micropthalmia, choanal atresia, dysplastic auricles with small accessory auricle, multicystic dysplastic kidney and hypospadias with cryptorchidism. Endocrine testing revealed central hypothyroidism and secondary hypoadrenalism. There was inadequate response to low-dose intravenous Synacthen stimulation test, with serum cortisol peaking at 10.3 µg/dl at 1 hour. He was started on thyroxine and hydrocortisone replacement, with hydrocortisone replaced first and thyroxine after a couple of days. Because of severe growth impairment by the age of 3.4 years (HSDS:–4.71, HVSDS: –3.62), growth hormone secretion was evaluated. A severe GHD was detected (peak GH 1.56 ng/ml in both tests) and rhGH therapy was initiated. MRI revealed ectopic posterior pituitary, without clinical significance.

Conclusion: We describe the case of a boy fulfilling criteria of CHARGE association^1,2 presenting with multiple anterior pituitary hormone deficiencies and structural pituitary abnormality. To our knowledge this is the 3rd case in the literature where congenital hypopituitarim in CHARGE syndrome is associated with pituitary structural abnormalities and especially ectopic posterior pituitary.

References

1. Trider C-L, et al., American Journal of Medical Genetics Part A, 2017 173(3) 684–691.

2. Verloes A. American Journal of Medical Genetics Part A, 2005 133(3) 306–308.