Letter to the Editor
STX16 deletion associated to pseudohypoparathyroidism
Deleción en el gen STX16 asociada a pseudohipoparatiroidismo
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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" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Isabel" "apellidos" => "Cornejo-Pareja" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Isabel" "apellidos" => "Mancha-Doblas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "Francisco J." "apellidos" => "Tinahones" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "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 <span class="elsevierStyleItalic">STX16</span> asociada a pseudohipoparatiroidismo" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">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 <span class="elsevierStyleItalic">GNAS</span><a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> gene, which is a complex locus located in chromosome 20q13.3. The first <span class="elsevierStyleItalic">GNAS</span> 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"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">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 6.3<span class="elsevierStyleHsp" style=""></span>mg/dl, PTH 546<span class="elsevierStyleHsp" style=""></span>pg/ml and calcitriol at 37<span class="elsevierStyleHsp" style=""></span>ng/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 8.09<span class="elsevierStyleHsp" style=""></span>mg/dl, PTH of 249.2<span class="elsevierStyleHsp" style=""></span>pg/ml, TSH of 9280<span class="elsevierStyleHsp" style=""></span>μIU/ml and FT4 of 0.69<span class="elsevierStyleHsp" style=""></span>ng/dl. She continued with her replacement therapy of Natecal D<span class="elsevierStyleSup">®</span>, half-tablet per day, and Hidroferol<span class="elsevierStyleSup">®</span> 5 drops drunk per day. The anamnesis did not clearly show whether or not she was being treated with Eutirox<span class="elsevierStyleSup">®</span> 25<span class="elsevierStyleHsp" style=""></span>μg. It was decided she would not be treated with Eutirox<span class="elsevierStyleSup">®</span> to re-evaluate the thyroid axis. In the following review the patient continued undergoing asymptomatic treatment and the mild hypocalcaemia 8.22<span class="elsevierStyleHsp" style=""></span>mg/dl remained at an analytical level, with PHT 263.9<span class="elsevierStyleHsp" style=""></span>pg/ml, vitamin D 50.53<span class="elsevierStyleHsp" style=""></span>ng/dl, normal thyroid function and positive peroxidase antibodies (79.5<span class="elsevierStyleHsp" style=""></span>IU/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.</p><p id="par0015" class="elsevierStylePara elsevierViewall">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.</p><p id="par0020" class="elsevierStylePara elsevierViewall">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"><span class="elsevierStyleSup">3,4</span></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"><span class="elsevierStyleSup">5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">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"><span class="elsevierStyleSup">6</span></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"><span class="elsevierStyleSup">7</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">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"><span class="elsevierStyleSup">8,9</span></a> and PHP1c.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">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.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Roca-Rodríguez MM, Cornejo-Pareja I, Mancha-Doblas I, Tinahones FJ. Deleción en el gen <span class="elsevierStyleItalic">STX16</span> asociada a pseudohipoparatiroidismo. 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