PMID- 37973156
OWN - NLM
STAT- MEDLINE
DCOM- 20240122
LR  - 20240202
IS  - 1439-3646 (Electronic)
IS  - 0947-7349 (Linking)
VI  - 132
IP  - 1
DP  - 2024 Jan
TI  - Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in 
      Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
PG  - 39-46
LID - 10.1055/a-2212-7536 [doi]
AB  - PURPOSE: 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 eight patients from seven 
      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 a 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.
CI  - Thieme. All rights reserved.
FAU - Kim, Ja Hye
AU  - Kim JH
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
FAU - Lee, Yena
AU  - Lee Y
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
FAU - Hwang, Soojin
AU  - Hwang S
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
FAU - Yoon, Ji-Hee
AU  - Yoon JH
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
FAU - Kim, Gu-Hwan
AU  - Kim GH
AD  - Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea.
FAU - Yoo, Han-Wook
AU  - Yoo HW
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
FAU - Choi, Jin-Ho
AU  - Choi JH
AD  - Department of Pediatrics, Asan Medical Center, University of Ulsan College of 
      Medicine, Seoul, Republic of Korea.
LA  - eng
GR  - NRF2021R1F1A104593011/National Research Foundation of Korea (NRF)/
PT  - Journal Article
DEP - 20231116
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
SB  - IM
MH  - Male
MH  - Humans
MH  - Adolescent
MH  - Child
MH  - *Multiple Endocrine Neoplasia Type 2a/diagnosis/genetics
MH  - *Multiple Endocrine Neoplasia Type 2b/diagnosis/genetics
MH  - Retrospective Studies
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics/therapy
MH  - *Thyroid Neoplasms
MH  - Disease Progression
COIS- The authors declare that they have no conflict of interest.
EDAT- 2023/11/17 15:28
MHDA- 2024/01/22 06:43
CRDT- 2023/11/16 20:22
PHST- 2024/01/22 06:43 [medline]
PHST- 2023/11/17 15:28 [pubmed]
PHST- 2023/11/16 20:22 [entrez]
AID - 10.1055/a-2212-7536 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2024 Jan;132(1):39-46. doi: 10.1055/a-2212-7536. 
      Epub 2023 Nov 16.