Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma

Kwon, Eun Byul; Jeong, Heisawn; Shim, Young Seok; Lee, Hae Sang; Hwang, Jin Soon

doi:10.3346/jkms.2016.31.6.1003

Cited by 12 publications

(7 citation statements)

References 17 publications

(19 reference statements)

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“…On review of the literature, the majority of insulinomas diagnosed in childhood are identified secondary to a family history of MEN1. Only a few children presenting with an insulinoma have been the proband case with additional endocrine tumors identified years later through clinical monitoring [ 6 – 9 ]. Case reports of multiple endocrine tumors diagnosed simultaneously are often confounded by delayed diagnosis with many years of symptomatology [ 10 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

Akhtar

Verardo

Crane

2018

Int J Pediatr Endocrinol

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BackgroundMultiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.Case PresentationTwelve year old female presented with altered mental status that self-resolved and hypoglycemia. Laboratory evaluation revealed pituitary dysfunction with central hypothyroidism and adrenal insufficiency in the setting of hyperprolactinemia. Macroadenoma was confirmed on imaging. Despite medical treatment of pituitary hormone disorders, she continued to have significant hypoglycemia and further workup revealed hyperinsulinism. Insulinoma was identified and confirmed by endoscopic ultrasound. Hypoglycemia resolved after laproscopic enucleation of the insulinoma.ConclusionChildren presenting with one endocrine tumor should be investigated for other potential endocrine tumors. Multiple imaging modalities may be required to confidently identify neuroendocrine tumors for appropriate surgical intervention.

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Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

Akhtar

Verardo

Crane

2018

Int J Pediatr Endocrinol

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“…Therefore, it is very important to start screening MEN1 patients for insulinoma beginning at the age of 5 [2,3], and to educate the parents of MEN1 children to recognize clinical manifestations of insulinoma [3]. Table 3 shows two cases of children with insulinoma as the first clinical manifestation of MEN 1 [17,18] (cases 14 and 15).…”

Section: Discussionmentioning

confidence: 99%

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

et al. 2017

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Purpose To retrospectively evaluate the age of onset of MEN1-associated lesions in a group of affected children and adolescents and to compare the clinical features of our series with the evidence derived from the literature. Methods The study population consisted of 22 Italian children and adolescents (age 6-31 years at the time of the inclusion in this study) all with a clinical and/or a genetic diagnosis of MEN1 performed before the age of 16 who have been followed-up regularly from 1998 to 2016 at the Regional Referral Center for Hereditary Endocrine Tumors. Clinical, biochemical, imaging and genetic data have been collected for each patient. Results Ten subjects (45.5%) have not yet presented any clinical/biochemical/radiological manifestation of MEN1 disease, whereas 12 patients (54.5%) developed at least one MEN1-associated endocrine manifestation. The second group of patients was significantly older than the first one. The most frequent manifestation was primary hyperparathyroidism (50%), followed by pituitary tumors (prolactinomas) (31.8%) and nonfunctioning pancreatic neuroendocrine tumors (9%). The earliest cases of primary hyperparathyroidism and prolactinoma were a 12-year-old girl and a 13-year-old boy, respectively. Conclusions MEN1 disease seems to present with different features in children and adolescents from those in adults.Our study confirms the fundamental importance of screening for tumors in young MEN1 patients beginning in early childhood, in order to avoid diagnostic and therapeutic delays.

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“…Studies on pediatric MEN1 have often investigated a small number of cases [10][11][12]. However, a retrospective study of 160 patients under the age of 21 years reported primary HPT as the most common and early presentation in children (34 %), followed by pituitary adenomas (34 %) and insulinomas (12 %) [13].…”

Section: Impact Of Early Diagnostic and Therapeutic Interventions And...mentioning

confidence: 99%

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2

Kim,

Lee,

Hwang

et al. 2023

Exp Clin Endocrinol Diabetes

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Objective: Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited endocrine tumor syndromes caused by mutations in the MEN1 or RET genes. This study aimed to investigate clinical outcomes and molecular characteristics among children with MEN. Methods: This study included 8 patients from 7 unrelated families. Data on clinical course, biochemical findings, and radiologic studies were collected by retrospective chart review. All diagnoses were genetically confirmed by Sanger sequencing of MEN1 in three MEN1 patients and RET in four patients with MEN2A and one patient with MEN2B. Results: Three patients with MEN1 from two families presented with hypoglycemia at a mean age of 11 ± 2.6 years. Four patients with MEN2A were genetically diagnosed at a mean of 3.0 ± 2.2 years of age by family screening; one of them was prenatally diagnosed by chorionic villus sampling. Three patients with MEN2A underwent prophylactic thyroidectomy from 5 to 6 years of age, whereas one patient refused surgery. The patient with MEN2B presented with a tongue neuroma and medullary thyroid carcinoma at 6 years of age. Subsequently, he underwent a subtotal colectomy because of bowel perforation and submucosal ganglioneuromatosis at 18 years of age. Conclusion: This study described the relatively long clinical course of pediatric MEN with mean follow-up duration of 7.5 ± 3.8 years. Insulinoma was the first manifestation in children with MEN1. Early diagnosis by family screening during the asymptomatic period enabled early intervention. The patient with MEN2B exhibited the most aggressive clinical course.

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Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma

Cited by 12 publications

References 17 publications

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2

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