Baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon
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Date
Subject
Crouzon syndrome
acrocephalosyndactyly type II
craniosynostosis
growth hormone deficiency.
Crouzon syndrome
acrocephalosyndactyly type II
craniosynostosis
growth hormone deficiency
acrocephalosyndactyly type II
craniosynostosis
growth hormone deficiency.
Crouzon syndrome
acrocephalosyndactyly type II
craniosynostosis
growth hormone deficiency
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Journal Title
Journal ISSN
Volume Title
Publisher
Intituto Tecnológico de Santo Domingo (INTEC)
El Síndrome de Crouzon constituye la craneosinostosis compleja más frecuente y conocida. Se transmite de forma autosómica dominante, con expresión variable, no tiene predilección racial ni de sexo y es infrecuente su asociación con el déficit selectivo de hormona de crecimiento. El objetivo de este estudio es describir el caso clínico de un paciente con baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon. Presentación de caso clínico: paciente masculino de 12.9 años de edad cronológica, con antecedentes patológicos personales de Síndrome de Crouzon, remitido al Departamento de Endocrinología Pediátrica del Instituto Nacional de Endocrinología por presentar retraso del crecimiento y desarrollo; a través de las manifestaciones clínicas y de los exámenes complementarios realizados se le diagnosticó una baja talla debido a una deficiencia selectiva e idiopática de hormona del crecimiento. Se inició tratamiento con hormona de crecimiento y se ha seguido periódicamente en consulta, alcanzando un crecimiento de 11.2 cm en 14 meses. Conclusiones: la infrecuente asociación del Síndrome de Crouzon a la deficiencia de hormona de crecimiento debe tenerse siempre presente; de ahí que estos pacientes deben ser seguidos por un equipo multidisciplinario, el cual ha de estar preparado para detectar estos hallazgos en este tipo de pacientes y tratarlos precozmente, proporcionando así mejoras en la calidad de vida de los mismos. Palabras clave: Síndrome de Crouzon; acrocefalosindactilia.
Crouzon syndrome is the most common and well-known complex craniosynostosis. It is transmitted in an autosomal dominant manner, with variable expression, has no racial or sex predilection and is infrequently associated with selective growth hormone deficiency.The objective of this study is to describe the clinical case of a patient with low height due to selective and idiopathic growth hormone deficiency associated with Crouzon Syndrome.Clinical case presentation: a male patient with a chronological age of 12.9 years, with a personal history of Crouzon Syndrome, who is referred to the Department of Pediatric Endocrinology of the National Institute of Endocrinology for delayed growth and development, where through manifestations Clinical and complementary examinations performed were diagnosed to be low size due to a selective and idiopathic growth hormone deficiency. Treatment with growth hormone was started and has been followed periodically in consultation, reaching a growth of 11.2 cm in 14 months. Conclusions: The infrequent association of Crouzon Syndrome with growth hormone deficiency should always be kept in mind; Hence, these patients must be followed by a multidisciplinary team, which must be prepared to detect these findings in this type of patients and treat them early by providing improvements in their quality of life.
Crouzon syndrome is the most common and well-known complex craniosynostosis. It is transmitted in an autosomal dominant manner, with variable expression, has no racial or sex predilection and is infrequently associated with selective growth hormone deficiency.The objective of this study is to describe the clinical case of a patient with low height due to selective and idiopathic growth hormone deficiency associated with Crouzon Syndrome.Clinical case presentation: a male patient with a chronological age of 12.9 years, with a personal history of Crouzon Syndrome, who is referred to the Department of Pediatric Endocrinology of the National Institute of Endocrinology for delayed growth and development, where through manifestations Clinical and complementary examinations performed were diagnosed to be low size due to a selective and idiopathic growth hormone deficiency. Treatment with growth hormone was started and has been followed periodically in consultation, reaching a growth of 11.2 cm in 14 months. Conclusions: The infrequent association of Crouzon Syndrome with growth hormone deficiency should always be kept in mind; Hence, these patients must be followed by a multidisciplinary team, which must be prepared to detect these findings in this type of patients and treat them early by providing improvements in their quality of life.
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info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol 1 No 1 (2017): Science and Health, september-december; 15-21
Ciencia y Salud; Vol. 1 Núm. 1 (2017): Ciencia y Salud, septiembre-diciembre; 15-21
2613-8824
2613-8816
10.22206/cysa.2017.v1i1
Ciencia y Salud; Vol. 1 Núm. 1 (2017): Ciencia y Salud, septiembre-diciembre; 15-21
2613-8824
2613-8816
10.22206/cysa.2017.v1i1