Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation.

Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of TMEM127-related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leufs∗52) in the TMEM127 gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in TMEM127-positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.

Tratamiento con hormona de crecimiento en pequeños para la edad gestacional en España / Growth hormone treatment in small for gestational age children in Spain

INTRODUCCIÓN: Desde su aprobación por la Agencia Europea del Medicamento, el tratamiento con hormona de crecimiento recombinante ha sido empleado en un gran número de pacientes nacidos pequeños para la edad gestacional en España. El propósito de este estudio es conocer objetivamente los resultados del mismo en la práctica habitual. MÉTODOS: Se ha recogido información procedente de los registros existentes en los comités asesores que autorizan dichos tratamientos en los hospitales públicos de 6 comunidades autónomas. RESULTADOS: Se han obtenido datos válidos de 974 pacientes. Todos ellos cumplían los criterios exigidos por la Agencia Europea del Medicamento. Los pacientes que recibieron el tratamiento se caracterizaron por tener la longitud al nacer más afectada que el peso, talla diana inferior a -1 desviación estándar (DE) y un 23% con antecedentes de prematuridad. La talla al iniciar el tratamiento fue de − 3,1 ± 0,8 DE (media ± DE) y la edad de comienzo 7,2 ± 2,8 años. La ganancia de talla en el primer año fue de 0,7 ± 0,2 DE, y de 1,2 ± 0,8 DE hasta los 2 años. La talla final, alcanzada por un 8% de pacientes, fue de -1,4 ± 0,7 DE. CONCLUSIONES: Los resultados concuerdan con las series nacionales e internacionales publicadas y son representativos de la práctica habitual en nuestro país. Se constata un inicio tardío del tratamiento, observándose, sin embargo, un adecuado crecimiento, tanto a corto plazo como en la talla final. En el primer año se identifica un 24% de pacientes con respuesta deficiente

INTRODUCTION: Since its approval by the European Medicines Agency, a great number of patients born small for gestational date have received recombinant growth hormone treatment in Spain. The aim of this study is to analyse its outcome in the setting of ordinary clinical practice. METHODS: Information was gathered from the registers of the assessment boards that authorise all growth hormone treatments prescribed in public hospitals in six autonomic communities (regions). RESULTS: Valid data from 974 patients was obtained. All of them complied with criteria established by the European Medicines Agency. Patients in the sample were smaller in length than weight at birth, with their median target height being below 1 standard deviation (SD), and 23% of them had been delivered prematurely. Treatment was started at 7.2 ± 2.8 years (mean ± SD). The mean patient height at start was − 3.1 ± 0.8 SD. They gained 0.7 ± 0.2 SD in the first year, and 1.2 ± 0.8 SD after two years. Final height was attained by 8% of the sample, reaching -1.4±0.7 SD. CONCLUSIONS: These results are similar to other Spanish and international published studies, and are representative of the current practice in Spain. Despite treatment being started at a late age, adequate growth is observed in the short term and in the final height. Up to a 24% of patients show a poor response in the first year

[Growth hormone treatment in small for gestational age children in Spain]. / Tratamiento con hormona de crecimiento en pequeños para la edad gestacional en España.

INTRODUCTION: Since its approval by the European Medicines Agency, a great number of patients born small for gestational date have received recombinant growth hormone treatment in Spain. The aim of this study is to analyse its outcome in the setting of ordinary clinical practice. METHODS: Information was gathered from the registers of the assessment boards that authorise all growth hormone treatments prescribed in public hospitals in six autonomic communities (regions). RESULTS: Valid data from 974 patients was obtained. All of them complied with criteria established by the European Medicines Agency. Patients in the sample were smaller in length than weight at birth, with their median target height being below 1 standard deviation (SD), and 23% of them had been delivered prematurely. Treatment was started at 7.2±2.8 years (mean±SD). The mean patient height at start was -3.1±0.8 SD. They gained 0.7±0.2 SD in the first year, and 1.2±0.8 SD after two years. Final height was attained by 8% of the sample, reaching -1.4±0.7 SD. CONCLUSIONS: These results are similar to other Spanish and international published studies, and are representative of the current practice in Spain. Despite treatment being started at a late age, adequate growth is observed in the short term and in the final height. Up to a 24% of patients show a poor response in the first year.