Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism

Abstract

We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway. She developed T 1 diabetes mellitus (T1DM) while under follow-up. This is arguably the first time T1DM has been reported associated with PHP.

New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results

“…There are only a few detailed reports on the coincidence of autoimmune thyroiditis and iPPSD (23,24,(43)(44)(45)(46). The coincidence of Graves' disease (with positive TRAb) and clinically diagnosed iPPSD2 was described by Uchimura et al and iPPSD3 by Gerhardt et al (23,46).…”

Association of Pseudohypoparathyroidism and Autoimmune Polyglandular Syndrome: Causal or Coincidental?

“…Krysiak et al described a case of PHP who also had concurrent chronic thyroiditis and pernicious anaemia, and suggested autoimmune mechanism for parathyroid hormone resistance [6]. In another case report the authors had described association of PHP with type 1 diabetes in a 12 year old child [7]. Konopka et al had described a case of PHP along with celiac disease; however, unlike our case the PHP in the index patient resolved with 7 month gluten free diet; suggesting possible role of autoimmunity as a prime pathogenic mechanism for PHP development [8].…”