Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B
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 Albrig...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2019-01-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM18-0125.xml |
| _version_ | 1811287133378314240 |
|---|---|
| author | Maria P Yavropoulou Efstathios Chronopoulos George Trovas Emmanouil Avramidis Francesca Marta Elli Giovanna Mantovani Pantelis Zebekakis John G Yovos |
| author_facet | Maria P Yavropoulou Efstathios Chronopoulos George Trovas Emmanouil Avramidis Francesca Marta Elli Giovanna Mantovani Pantelis Zebekakis John G Yovos |
| author_sort | Maria P Yavropoulou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T03:13:23Z |
| format | Article |
| id | doaj.art-aec457564ca6422ea76200615fc154f3 |
| institution | Directory Open Access Journal |
| issn | 2052-0573 2052-0573 |
| language | English |
| last_indexed | 2024-04-13T03:13:23Z |
| publishDate | 2019-01-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-aec457564ca6422ea76200615fc154f32022-12-22T03:04:59ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732052-05732019-01-01111510.1530/EDM-18-0125Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1BMaria P Yavropoulou0Efstathios Chronopoulos1George Trovas2Emmanouil Avramidis3Francesca Marta Elli4Giovanna Mantovani5Pantelis Zebekakis6John G Yovos71st Propaedeutic Department of Internal Medicine, LAIKO General Hospital of Athens, National and Kapodistrian University of Athens, Athens, Greece2nd Orthopaedic Department, Konstantopouleio General Hospital, National and Kapodistrian University of Athens, Athens, GreeceLaboratory for Research of the Musculoskeletal System, Th Garofalidis, National and Kapodistrian University of Athens, Athens, Greece2nd Orthopaedic Department, Konstantopouleio General Hospital, National and Kapodistrian University of Athens, Athens, GreeceEndocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, ItalyEndocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy1st Department of Internal Medicine, AHEPA University Hospital, Thessaloniki, Greece1st Department of Internal Medicine, AHEPA University Hospital, Thessaloniki, GreecePseudohypoparathyroidism (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.https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM18-0125.xml |
| spellingShingle | Maria P Yavropoulou Efstathios Chronopoulos George Trovas Emmanouil Avramidis Francesca Marta Elli Giovanna Mantovani Pantelis Zebekakis John G Yovos Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B Endocrinology, Diabetes & Metabolism Case Reports |
| title | Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B |
| title_full | Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B |
| title_fullStr | Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B |
| title_full_unstemmed | Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B |
| title_short | Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B |
| title_sort | hypercalcitoninaemia in pseudohypoparathyroidism type 1a and type 1b |
| url | https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM18-0125.xml |
| work_keys_str_mv | AT mariapyavropoulou hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT efstathioschronopoulos hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT georgetrovas hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT emmanouilavramidis hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT francescamartaelli hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT giovannamantovani hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT panteliszebekakis hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b AT johngyovos hypercalcitoninaemiainpseudohypoparathyroidismtype1aandtype1b |