Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

PURPOSE: To identify consensus aspects related to the diagnosis, monitoring, and treatment of short stature in children to promote excellence in clinical practice. METHODS: Delphi consensus organised in three rounds completed by 36 paediatric endocrinologists. The questionnaire consisted of 26 topics grouped into: (1) diagnosis; (2) monitoring of the small-for-gestational-age (SGA) patient; (3) growth hormone treatment; and (4) treatment adherence. For each topic, different questions or statements were proposed. RESULTS: After three rounds, consensus was reached on 16 of the 26 topics. The main agreements were: (1) diagnosis tests considered as a priority in Primary Care were complete blood count, biochemistry, thyroid profile, and coeliac disease screening. The genetic test with the greatest diagnostic value was karyotyping. The main criterion for initiating a diagnostic study was prediction of adult stature 2 standard deviations below the target height; (2) the main criterion for initiating treatment in SGA patients was the previous growth pattern and mean parental stature; (3) the main criterion for response to treatment was a significant increase in growth velocity and the most important parameter to monitor adverse events was carbohydrate metabolism; (4) the main attitude towards non-responding patients is to check their treatment adherence with recording devices. The most important criterion for choosing the delivery device was its technical characteristics. CONCLUSIONS: This study shows the different degrees of consensus among paediatric endocrinologists in Spain concerning the diagnosis and treatment of short stature, which enables the identification of research areas to optimise the management of such patients.

Hipopituitarismo. Una causa poco frecuente de retraso psicomotor / Hypopituitarism: An uncommon cause of developmental delay

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Centros de referencia: Hospital Infantil Miguel Servet / Reference centers: Hospital Infantil Universitario Miguel Servet

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Unidad de Endocrinología Pediátrica y Diabetes del Hospital Infantil Universitario Miguel Servet: de nuestro pasado, presente y futuro / Pediatric endocrinology and diabetes unit of the Hospital Infantil Universitario Miguel Servet: our past, present and future

La endocrinología pediátrica es un área específica de la pediatría en constante evolución que ha experimentado un gran desarrollo en los últimos 30 años. En este trabajo se presenta el desarrollo de la Unidad de Endocrinología Pediatrica y Diabetes del Hospital Infantil Miguel Servet de Zaragoza desde su creación en 1978. La Unidad realiza una importante labor asistencial, docente y de investigación clínica, tanto en el campo de la endocrinología como de la diabetes y la cartera de servicios incluye los trastornos endocrinos desde la edad fetal hasta la adolescencia. La Unidad ha tenido una especial dedicación al crecimiento normal y patológico, elaboración de estándares de referencia y a la detección precoz de las endocrinopatías infantiles, actuando como centro de referencia en el cribado neonatal (AU)

Pediatric endocrinology is a specific pediatric subespeciality in permanent evolution that has experienced a tremendous development in the last 30 years. In this article the evolution of the Pediatric Endocrinology and Diabetes Unit of the Children’s Hospital Miguel Servet is presented since it was created in 1978. The Unit displays an important medical activity in terms of assistance, teaching and clinical research, both in the field of endocrinology and diabetes, and it attends all endocrinopathies since fetal period until adolescence. The Unit has been specially focused on normal and abnormal growth and development, elaboration of growth standards and early detection of pediatric endocrinopathies being a center of reference in neonatal screening (AU)

Síndrome poliglandular autoinmune tipo 1 y mutación C322fsX372 / Type i polyglandular autoimmune syndrome associated with C322fsx372 mutation

Los síndromes poliglandulares autoinmunes son raras endocrinopatías en las que coexisten alteraciones de las glándulas endocrinas, basadas en mecanismos autoinmunes con otras enfermedades no endocrinas. En el tipo 1, las manifestaciones características son la candidiasis mucocutánea crónica, el hipoparatiroidismo y la insuficiencia suprarrenal. Presentamos a una paciente que presenta la secuencia clínica típica, junto con otras alteraciones, realizando estudio genético del gen autoimmune regulator (AIRE), detectándose una mutación en homocigosis, C322fsX372. La herencia es autonómica recesiva, asociada a mutaciones en el gen AIRE, el cual codifica una protei′na que interviene en procesos de autoinmunidad e inmunodeficiencia. Para el diagnóstico, se requieren al menos 2 de las 3 manifestaciones clínicas principales, aunque en el estudio de familiares de pacientes afectados solo se requiere una de ellas. Estos síndromes deben ser diagnosticados en etapas tempranas, dada su alta morbimortalidad. Es necesario tratar cada una de las alteraciones, con el objetivo de preservar la calidad de vida

Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE)

Valoración clínica inicial y asignación de sexo / No disponible

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Síndrome del lactante zarandeado y osteogénesis imperfecta / Shaken baby syndrome and osteogenesis imperfecta

Introducción. El síndrome del lactante zarandeado (SLZ) es una forma de maltrato físico que incluye la presencia de hematoma subdural o subaracnoideo o edema cerebral difuso, hemorragias retinianas y, en general, ausencia de otros signos físicos de traumatismos. La osteogénesis imperfecta (OI) es un trastorno genético de la síntesis del colágeno de tipo I que ocasiona fragilidad ósea con fracturas frecuentes, y que tiene diferentes formas clínicas de presentación. Se realiza el diagnóstico diferencial con el maltrato físico por la existencia de fracturas óseas sin traumatismos conocidos, pero desconocemos la asociación de la OI con el SLZ. Caso clínico. Se presenta un lactante que a los 3 meses padeció un cuadro de encefalopatía aguda con convulsiones, hematoma subdural y hemorragias retinianas compatibles con el SLZ, así como fracturas costales bilaterales. La serie esquelética evidenció la alteración de la estructura y la textura ósea, lo que llevó al diagnóstico de OI mediante el estudio del colágeno en fibroblastos de piel. Conclusiones. La sospecha del SLZ es desagradable para los profesionales y los familiares. La existencia de fracturas costales en un claro caso de lactante zarandeado orientaba al maltrato malintencionado; sin embargo, la actitud de los padres y la existencia de OI hicieron pensar que no hubo intención de dañar. El zarandeo pudo ser secundario a episodios de llanto por microfisuras en relación con la OI. Debe plantearse el diagnóstico diferencial de procesos que pueden confundirse con el niño zarandeado o de factores médicos favorecedores o predisponentes

Introduction. Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal haemorrhages and, in general, absence of other physical signs of traumatic injury. Osteogenesis imperfecta (OI) is a genetic disorder affecting the synthesis of type I collagen that leads to brittle bones with frequently occurring fractures, with presenting clinical symptoms taking a variety of forms. A differential diagnosis allowing it to be distinguished from physical abuse is known, due to the existence of bone fractures with no known traumatic injuries, but we do not understand the link between OI and SBS. Case report. We describe the case of an infant who, at the age of 3 months, suffered symptoms of acute encephalopathy with convulsions, subdural haematoma and retinal haemorrhages compatible with SBS, as well as bilateral rib fractures. The skeletal series of X-rays revealed alterations in bone structure and texture, which led to a diagnosis of OI that was confirmed by a study of the collagen in skin fibroblasts. Conclusions. The suspected existence of SBS is unpleasant both for the health care professional and for the patient’s relatives. The existence of rib fractures in an obvious case of shaken baby syndrome suggested malicious abuse; however, the parents’ attitude and the existence of OI made us think that no harm was intended. Shaking could have been secondary to bouts of crying due to microfissures related to the OI. The differential diagnosis of processes that can be mistaken for shaken baby or from favourable or predisposing medical factors must be taken into consideration