RESUMO
OBJECTIVE: Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. DESIGN: Clinical and molecular analysis of 235 patients (age ≤ 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data. METHODS: Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults' (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. RESULTS: Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. CONCLUSIONS: Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value.
Assuntos
Adenoma , Neoplasias Hipofisárias , Adenoma/diagnóstico , Adenoma/epidemiologia , Adenoma/genética , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Chile/epidemiologia , Estudos de Coortes , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Lactente , Recém-Nascido , Perda de Heterozigosidade , Masculino , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/genética , Espanha/epidemiologia , Adulto JovemRESUMO
OBJECTIVE: Descriptive anthropometric survey in a cohort of very low birth weight infants (VLBWI) newborns from birth to age 8 years, analyzing the growth characteristics in these patients. MATERIAL AND METHODS: Retrospective registration of weight and height at birth and age 0.5, 1, 1.5, 2, 3, 4, 6 and 8 years in a cohort of 170 VLBWI (< 1500 g). Patients were separated into appropriate for gestational age (AGA, n=101) and low birth weight or small for gestational age (SGA, n=69) according to the charts from Carrascosa et al. Anthropometric variables were compared with those from a control group. RESULTS: Gestational age was 30.4±3.1 weeks. Weight and height at birth were 1182.1± 228.4 g and 38.2± 3.2 cm, respectively. Weight, height and body mass index in both sexes and every considered age were higher (p<0.05) within the control group with respect to VLBWI (AGA and SGA). At age 2, 81.2% and 71% of AGA and SGA (p<0.05) respectively, presented with normal height. At age 8, the height of 8.95% of AGA and 17.4% of SGA infants did not exceed the 2 SD below the average of the control group. CONCLUSIONS: VLBWI have a catch-up growth which allows the acquisition of normal height in 87.1% and 78.3% of patients in groups AGA and SGA, respectively, at age 4. Only 8.9% of patients in group AGA did not present catch-up growth at age 8, being the possibility of treatment with growing hormone (GH) not included.
Objetivo: Estudio descriptivo antropométrico en una cohorte de recién nacidos de muy bajo peso (RNMBP) desde el nacimiento hasta los 8 años de edad, analizándose las características del crecimiento en estos pacientes. Material y Métodos: Registro retrospectivo del peso y talla al nacimiento y a los 0.5, 1, 1.5, 2, 3, 4, 6 y 8 años de edad de una cohorte de 170 RNMBP (
Assuntos
Antropometria , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Estudos RetrospectivosRESUMO
Objetivo: Estudio descriptivo antropométrico en una cohorte de recién nacidos de muy bajo peso (RNMBP) desde el nacimiento hasta los 8 años de edad, analizándose las características del crecimiento en estos pacientes. Material y Métodos: Registro retrospectivo del peso y talla al nacimiento y a los 0.5, 1, 1.5, 2, 3, 4, 6 y 8 años de edad de una cohorte de 170 RNMBP (<1.500g). Se dividieron en recién nacidos con peso adecuado para la edad gestacional (AEG, n=101) y recién nacidos con bajo peso para la edad gestacional (PEG, n=69), según las tablas de Carrascosa et al. Las variables antropométricas se compararon con un grupo control. Resultados: La edad gestacional era de 30,4±3,1 semanas. El peso y la talla al nacer eran de 1.182,1±228,4 g y de 38,2±3,2 cm, respectivamente. En ambos sexos y en todas las edades consideradas los pesos, tallas e IMC eran superiores (p<0,05) en el grupo control. A los 2 años de edad el 81,2% y el 71% de los AEG y PEG (p<0,05), respectivamente, tenían una talla normal. A los 8 años de edad la talla del 8,9% de AEG y del 17,4% de PEG no habían experimentado un crecimiento recuperador. Conclusiones: Los RNMBP tienen un crecimiento recuperador que permite alcanzar a los 4 años de edad una talla normal al 87,1% y 78,3% de AEG y PEG, respectivamente. A los 8 años de edad el 8,9% de AEG no presentaban crecimiento recuperador, sin contemplarse laposibilidad de tratamiento con hormona de crecimiento (AU)
Objective: Descriptive anthropometric survey in a cohort of very low birth weight infants (VLBWI) newborns from birth to age 8 years, analyzing the growth characteristics in these patients. Material and Methods: Retrospective registration of weight and height at birth and age 0.5, 1, 1.5, 2, 3, 4, 6 and 8 years in a cohort of 170 VLBWI (< 1500 g). Patients were separated into appropriate for gestational age (AGA, n=101) and low birth weight or small for gestational age (SGA, n=69) according to the charts from Carrascosa et al. Anthropometric variables were compared with those from a control group. Results: Gestational age was 30.4±3.1 weeks. Weight and height at birth were 1182.1± 228.4 g and 38.2± 3.2 cm, respectively. Weight, height and body mass index in both sexes and every considered age were higher (p<0.05) within the control group with respect to VLBWI (AGA and SGA). At age 2, 81.2% and 71% of AGA and SGA (p<0.05) respectively, presented with normal height. At age 8, the height of 8.95% of AGA and 17.4% of SGA infants did not exceed the 2 SD below the average of the control group. Conclusions: VLBWI have a catch-up growth which allows the acquisition of normal height in 87.1% and 78.3% of patients in groups AGA and SGA, respectively, at age 4. Only 8.9% of patients in group AGA did not present catch-up growth at age 8, being the possibility (AU)
