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Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:531-534
We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisti
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1605-1608
Objectives Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life. Case presentation We report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis a
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:1019-1022
Background The dose of hydrocortisone therapy required to maintain normal growth in infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is lower than in later childhood. This reflects the presence of excess non-aromatis