PMID- 35038837
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230112
IS  - 2287-1012 (Print)
IS  - 2287-1292 (Electronic)
IS  - 2287-1012 (Linking)
VI  - 27
IP  - 4
DP  - 2022 Dec
TI  - Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a 
      case report.
PG  - 315-319
LID - 10.6065/apem.2142100.050 [doi]
AB  - Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked 
      to familial cancer syndrome. Although the prevalence of ACC is extremely low in 
      children, it is clinically important to diagnose ACC early because age and tumor 
      stage are closely related to prognosis. From this perspective, understanding the 
      underlying genetics and possible symptoms of ACC is crucial in managing ACC with 
      familial cancer syndromes. In this report, we present the case of a 3-year-old 
      girl who initially presented with symptoms of precocious puberty and was later 
      found to have ACC by imaging analysis. On genetic analysis, the patient was found 
      to have a MEN1 gene mutation. MEN1 mutations are found in patients with multiple 
      endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine 
      tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. 
      Although MEN1 mutation is usually inherited in an autosomal dominant manner, 
      neither of the patient's parents had the same mutation, making hers a case of 
      sporadic MEN1 mutation with initial presentation of ACC. The clinical course and 
      further investigations of this patient are discussed in detail in this report.
FAU - Kim, Sung Eun
AU  - Kim SE
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Lee, Na Yeong
AU  - Lee NY
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Cho, Won Kyoung
AU  - Cho WK
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Yim, Jisook
AU  - Yim J
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea.
FAU - Lee, Jae Wook
AU  - Lee JW
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Kim, Myungshin
AU  - Kim M
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea.
FAU - Chung, Jae Hee
AU  - Chung JH
AD  - Department of Surgery, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Jung, Min Ho
AU  - Jung MH
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Suh, Byung-Kyu
AU  - Suh BK
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
FAU - Ahn, Moon Bae
AU  - Ahn MB
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
LA  - eng
PT  - Case Reports
DEP - 20220117
PL  - Korea (South)
TA  - Ann Pediatr Endocrinol Metab
JT  - Annals of pediatric endocrinology & metabolism
JID - 101588279
PMC - PMC9816470
OTO - NOTNLM
OT  - Adrenal gland neoplasm
OT  - Adrenocortical carcinoma
OT  - Multiple endocrine neoplasia
OT  - Precocious puberty
COIS- Conflicts of interest No potential conflict of interest relevant to this article 
      was reported.
EDAT- 2022/01/19 06:00
MHDA- 2022/01/19 06:01
PMCR- 2022/12/01
CRDT- 2022/01/18 01:22
PHST- 2021/05/03 00:00 [received]
PHST- 2021/06/22 00:00 [accepted]
PHST- 2022/01/19 06:00 [pubmed]
PHST- 2022/01/19 06:01 [medline]
PHST- 2022/01/18 01:22 [entrez]
PHST- 2022/12/01 00:00 [pmc-release]
AID - apem.2142100.050 [pii]
AID - apem-2142100-050 [pii]
AID - 10.6065/apem.2142100.050 [doi]
PST - ppublish
SO  - Ann Pediatr Endocrinol Metab. 2022 Dec;27(4):315-319. doi: 
      10.6065/apem.2142100.050. Epub 2022 Jan 17.