STX16 deletion associated to pseudohypoparathyroidism

Roca-Rodríguez, María del Mar; Cornejo-Pareja, Isabel; Mancha-Doblas, Isabel; Tinahones, Francisco J.

doi:10.1016/j.medcle.2016.05.015

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Tinahones" "autores" => array:4 [ 0 => array:4 [ "nombre" => "María del Mar" "apellidos" => "Roca-Rodríguez" "email" => array:1 [ 0 => "maroca80@gmail.com" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Isabel" "apellidos" => "Cornejo-Pareja" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Isabel" "apellidos" => "Mancha-Doblas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "Francisco J." "apellidos" => "Tinahones" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Unidad de Gestión Clínica de Endocrinología y Nutrición, Hospital Clínico, Málaga, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Gestión Clínica de Endocrinología y Nutrición, Hospital Regional, Málaga, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Deleción en el gen STX16 asociada a pseudohipoparatiroidismo" ] ] "textoCompleto" => "Pseudohypoparathyroidism (PHP) is characterised by hypocalcaemia and hyperphosphatemia due to peripheral resistance to the action of parathyroid hormone (PTH). The molecular basis resides in a defect in the complex Gs protein activator receptor of the adenylate cyclase system encoded by the GNAS<a class="elsevierStyleCrossRef" href="#bib0055">1</a> gene, which is a complex locus located in chromosome 20q13.3. The first GNAS gene mutations were discovered in 1990 and have an autosomal dominant inheritance with parental imprinting. There are several variants of PHP based on its clinical, biochemical and genetic characteristics.<a class="elsevierStyleCrossRef" href="#bib0060">2</a>We report the clinical case of a 40-year-old woman from Nepal, who had undergone oral treatment with calcium since 2003 following hospitalisation for severe tetany with calcium doses of 6.3mg/dl, PTH 546pg/ml and calcitriol at 37ng/dl, with subclinical hypothyroidism. Her family history included a sister with a possible tetany profile. On examination, the phenotype and neck were normal. At the time of the visit, the patient was asymptomatic. Her bone densitometry showed mild osteopenia and analytical calcium results of 8.09mg/dl, PTH of 249.2pg/ml, TSH of 9280μIU/ml and FT4 of 0.69ng/dl. She continued with her replacement therapy of Natecal D®, half-tablet per day, and Hidroferol® 5 drops drunk per day. The anamnesis did not clearly show whether or not she was being treated with Eutirox® 25μg. It was decided she would not be treated with Eutirox® to re-evaluate the thyroid axis. In the following review the patient continued undergoing asymptomatic treatment and the mild hypocalcaemia 8.22mg/dl remained at an analytical level, with PHT 263.9pg/ml, vitamin D 50.53ng/dl, normal thyroid function and positive peroxidase antibodies (79.5IU/ml), the remaining hormonal axis did no show abnormalities. The morphological and functional evaluation of thyroid and parathyroid glands were normal. The bone densitometry showed normalisation of bone mineral density (BMD) and a genetic study for mutations in the GNAS gene was negative, although there was heterozygosity of 2 polymorphisms without clinical relevance to date (c.393C>T [p.Ile131Ile] rs7121 and c.586-42 G>A [IVS7-42] rs1004902). Given that an uncertain percentage of PHP cases are due to deletions and changes in the GNAS gene methylation pattern, the Genetics department recommended completing the study with a multiplex ligation-dependent probe amplification (MLPA). A heterozygous deletion was found of exons 5 and 6 of the STX16 gene. Because her parents could not be studied, it was decided that a genetic study would be carried out on her 2 asymptomatic children who were not carriers of this deletion.It has been observed that patients with PHP showed a lower BMD, but recent studies conclude that in PHP1a the BMD is even higher and has less risk of fractures. Patients with PHP may have muscle spasms, convulsions, tetany, memory disorders and arrhythmias as well as glucose intolerance and diabetes.The defect in the function of the Gs protein by an inactive mutation presents a paternal imprinting, only manifesting PHP1a if the mutated gene comes from the mother. If the gene is mutated from the paternal side, the patient will present a PHP with Albright's hereditary osteodystrophy phenotype (AHO), but without electrolyte abnormalities.<a class="elsevierStyleCrossRefs" href="#bib0065">3,4</a> The degree of printing defect was not correlated with the onset of the disease, the severity of hormone resistance or the presence or absence of specific signs of AHO.<a class="elsevierStyleCrossRef" href="#bib0075">5</a>Molecular analyses MS-MLPA have proven to be a suitable method for identifying concomitant GNAS genetic and epigenetic defects in patients with PHP,<a class="elsevierStyleCrossRef" href="#bib0080">6</a> and have displaced the exogenous PTH infusion test or the Ellsworth-Howard test for being more accurate and facilitating genetic counselling. Regarding treatment, symptoms should be treated and not the calcium numbers. If hypercalciuria develops, thiazide diuretics may be used, and if it hyperphosphatemia appears, administer intestinal phosphate binders. If there is an associated endocrine disease, replacement therapy should follow the same criteria and dose and be monitored regularly. The use of GH replacement therapy is not obvious. Another therapeutic option is teriparatide or PTH 1-34 synthetic, which should be considered if a risk of nephrocalcinosis exists, as it manages the normalisation of serum calcium without increasing urinary calcium, according to some studies, although it is subcutaneous, expensive and no long-term studies have been reported.<a class="elsevierStyleCrossRef" href="#bib0085">7</a>Our patient showed a heterozygous deletion of exons 5 and 6 of the STX16 gene. STX16 gene deletions have previously been associated with PHP1b<a class="elsevierStyleCrossRefs" href="#bib0090">8,9</a> and PHP1c.<a class="elsevierStyleCrossRef" href="#bib0100">10</a>Thus, PHP is a complex entity in which similar molecular abnormalities may lead to a broad spectrum of clinical features, the degree of molecular abnormalities does not reflect or predict the severity, and type of clinical manifestations and many pathophysiological aspects are still unknown. New advances in epigenetic and the emergence of new polymorphisms involved in the different types of PHP contribute to a better understanding of the GNAS complex locus and force us to reclassify these clinical entities based not only on clinical and laboratory abnormalities, but also on genetic and epigenetic changes." 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Miolo" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1210/jc.2013-3704" "Revista" => array:6 [ "tituloSerie" => "J Clin Endocrinol Metab" "fecha" => "2014" "volumen" => "99" "paginaInicial" => "E724" "paginaFinal" => "E728" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24438374" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0100" "etiqueta" => "10" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "B. Brix" 1 => "R. Werner" 2 => "P. Staedt" 3 => "D. Struve" 4 => "O. Hiort" 5 => "S. Thiele" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1210/jc.2013-4477" "Revista" => array:7 [ "tituloSerie" => "J Clin Endocrinol Metab" "fecha" => "2014" "volumen" => "99" "paginaInicial" => "E1564" "paginaFinal" => "E1570" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24878042" "web" => "Medline" ] ] "itemHostRev" => array:3 [ "pii" => "S0735109715042709" "estado" => "S300" "issn" => "07351097" ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack278024" "titulo" => "Acknowledgements" "texto" => "To Cristina Pérez, from CIc – Analítica Clínica Especial de Barcelona (Special Analytical Clinic in Barcelona) – for her collaboration in the genetic studies conducted." 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ISSN: 2387-0206

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

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Impact factor

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years.

© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2023

2.6

Citescore

CiteScore measures average citations received per document published.

Citescore 2023

3.1

SJR

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

SJR 2023

0.371

SNIP

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SNIP 2023

0.511

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Vol. 146. Issue 6.