Screening children at risk of developing inherited endocrine neoplasia syndromes

Johnston, LB; Sl, Chew; Trainer, Peter J; Reznek, Rodney H.; Grossman, A; Gm, Besser; Monson, JP; Mo, Savage

doi:10.1046/j.1365-2265.2000.00956.x

Cited by 30 publications

(22 citation statements)

References 64 publications

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“…A pancreatic insulinoma has been described in a 7-year-old boy (23), and primary hyperparathyroidism from the age of 8 years (24). Johnston et al (25,26) suggested a screening programme for children carrying MEN1 gene mutations, to start at the age of 10 -15 years. These children should be screened with annual blood tests measuring serum calcium, pancreatic polypeptide and gastrin, prolactin and insulin-like growth factor-1.…”

Section: Discussionmentioning

confidence: 99%

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

Rix

Hertel

et al. 2004

European Journal of Endocrinology

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Objective: To describe three cases of Cushing's disease in children with multiple endocrine neoplasia type 1 (MEN1), as clinical manifestations of MEN1 are very rare in childhood. Design and methods: A retrospective review of three cases of Cushing's disease diagnosed between 1997 and 1999. Genetic screening for MEN1 gene mutation was performed in each patient. Results: An ACTH-secreting microadenoma was diagnosed in three children, aged 11 -13 years, presenting with growth retardation and weight gain over a period of 3-4 years. All patients had successful transsphenoidal adenomectomies. Primary hyperparathyroidism was subsequently diagnosed in two of the patients, and in the monozygotic twin of one of the patients. A new mutation in the MEN1 gene (Tyr351His) was identified in two of the patients and the affected members of their families. In the third patient a de novo MEN1 gene mutation (Leu444Pro) was found. Conclusions: MEN1 has to be considered in all children with tumours of the pituitary gland, and in those presenting with primary hyperparathyroidism. The children and their families should be advised to seek genetic counselling. We suggest that careful growth records be kept for children at risk of developing inherited MEN1 and, in the event of a decelerating growth rate, further diagnostic evaluation be undertaken with regards to ACTH-secreting pituitary tumours.European Journal of Endocrinology 151 709-715

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Section: Discussionmentioning

confidence: 99%

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

Rix

Hertel

et al. 2004

European Journal of Endocrinology

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“…Pancreatic insulinoma has been described in a 7-year-old boy (24), followed by primary hyperparathyroidism at the age of 8 years (3). Our index patient showed an insulinoma when he was 8 years old, reinforcing the proposition that a clinical screening program for children carrying MEN1 gene mutations should start at the age of 10-15 years (21,22,25,26). These children should be evaluated with annual blood tests by measuring serum calcium, pancreatic polypeptide and gastrin, prolactin and insulin-like growth factor-1.…”

Section: Discussionmentioning

confidence: 99%

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Fabbri

Mello

Soardi

et al. 2010

Arq Bras Endocrinol Metab

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

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“…O rastreamento bioquímico para HPT poderia ser iniciado entre 10 e 15 anos (49) e para tumores enteropancreáticos e hipofisários acima dos 10 anos (50) . Sugere-se a dosagem sérica anual de cálcio, polipeptídeo pancreático, gastrina, GH e prolactina bem como a realização do USG endoscópico.…”

Section: Rastreamento Gênico E Clínicounclassified

“…Sugere-se a dosagem sérica anual de cálcio, polipeptídeo pancreático, gastrina, GH e prolactina bem como a realização do USG endoscópico. No intervalo de 3-5 anos, os pacientes seriam submetidos à realização de RM de abdome e hipófise (50) .…”

Section: Rastreamento Gênico E Clínicounclassified

“…A análise dos nossos dados, resultantes da investigação ativa de NF-PETs (50)(51)(52)(53) . Considerando a sobrevida de pacientes com NEM1 e a necessidade de realização de exames de imagem sugeridos pelo Consenso (2001) a cada 3-5 anos, a simples realização de TC tórax a cada três anos para investigação de tumores carcinóides ultrapassaria a quantidade segura de radiação ionizante a que um paciente poderia se submeter durante a vida para não elevar o risco de tumorigênese induzida pela radiação ionizante.…”

Section: Avaliação Psicológica Preliminarunclassified

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Rastreamento clínico de tumores endócrinos em jovens portadores de mutação MEN1 germinativa: avaliação do impacto clínico em relação aos critérios do consenso internacional de neoplasia endócrina múltipla tipo 1

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Screening children at risk of developing inherited endocrine neoplasia syndromes

Cited by 30 publications

References 64 publications

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

Cushing's disease in childhood as the first manifestationof multiple endocrine neoplasia syndrome type 1

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Rastreamento clínico de tumores endócrinos em jovens portadores de mutação MEN1 germinativa: avaliação do impacto clínico em relação aos critérios do consenso internacional de neoplasia endócrina múltipla tipo 1

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