Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B

Maria P. Yavropoulou, Efstathios Chronopoulos, George Trovas, Emmanouil Avramidis, Francesca Marta Elli, Giovanna Mantovani, Pantelis Zebekakis, John G. Yovos

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Abstract

Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action of the parathyroid hormone. Type 1A (PHP1A), which is the most common variant, also include developmental and skeletal defects named as Albright hereditary osteodystrophy (AHO). We present two cases, a 54- and a 33-year-old male diagnosed with PHP who were referred to us for persistently high levels of serum calcitonin. AHO and multinodular goitre were present in the 54-year-old male, while the second patient was free of skeletal deformities and his thyroid gland was of normal size and without nodular appearance. We performed GNAS molecular analysis (methylation status and copy number analysis by MS-MLPA) in genomic DNA samples for both patients. The analysis revealed a novel missense variant c.131T>G p.(Leu44Pro) affecting GNAS exon 1, in the patient with the clinical diagnosis of PHP1A. This amino acid change appears to be in accordance with the clinical diagnosis of the patient. The genomic DNA analysis of the second patient revealed the presence of the recurrent 3-kb deletion affecting the imprinting control region localised in the STX16 region associated with the loss of methylation (LOM) at the GNAS A/B differentially methylated region and consistent with the diagnosis of an autosomal dominant form of PHP type 1B (PHP1B). In conclusion, hypercalcitoninaemia may be encountered in PHP1A and PHP1B even in the absence of thyroid pathology.

Original languageEnglish
Article number18-0125
JournalEndocrinology, Diabetes and Metabolism Case Reports
Volume2019
Issue number1
DOIs
Publication statusPublished - Jan 1 2019

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ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Yavropoulou, M. P., Chronopoulos, E., Trovas, G., Avramidis, E., Elli, F. M., Mantovani, G., Zebekakis, P., & Yovos, J. G. (2019). Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B. Endocrinology, Diabetes and Metabolism Case Reports, 2019(1), [18-0125]. https://doi.org/10.1530/EDM-18-0125