PMID- 32577074
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 0974-1208 (Print)
IS  - 1998-4766 (Electronic)
IS  - 1998-4766 (Linking)
VI  - 13
IP  - 1
DP  - 2020 Jan-Mar
TI  - Multiple Uterine Leiomyomas in Multiple Endocrine Neoplasia Type 1 with a Novel 
      MEN1 Gene Mutation.
PG  - 75-77
LID - 10.4103/jhrs.JHRS_42_19 [doi]
AB  - To report the clinical, hormonal, and genetic features of a female with multiple 
      endocrine neoplasia type 1 (MEN1) with multiple uterine leiomyomas. The study was 
      conducted at a tertiary care endocrinology unit. A 27-year-old female was 
      diagnosed with prolactinoma, primary hyperparathyroidism (PHPT), and multiple 
      uterine leiomyomas. In view of prolactinoma and PHPT, a clinical diagnosis of 
      MEN1 syndrome was made. She also had multiple uterine leiomyomas for which 
      myomectomy was done. Genetic analysis revealed a novel mutation c.1763C>T, 
      p.S588L of MEN1 gene. The association of uterine leiomyomas with MEN1 is 
      exceptionally rare. This is the first report of multiple uterine leiomyomas in a 
      patient with MEN1 from our country and the first report of this mutation in the 
      MEN1 gene in the world. We conclude that in the presence of multiple uterine 
      leiomyomas and endocrine tumor, clinical examination and laboratory evaluation 
      may uncover the diagnosis of MEN1 syndrome in these patients.
CI  - Copyright: (c) 2020 Journal of Human Reproductive Sciences.
FAU - Misgar, Raiz Ahmad
AU  - Misgar RA
AD  - Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, 
      Srinagar, Jammu and Kashmir, India.
FAU - Sahu, Danendra
AU  - Sahu D
AD  - Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, 
      Srinagar, Jammu and Kashmir, India.
FAU - Purra, Sameer
AU  - Purra S
AD  - Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, 
      Srinagar, Jammu and Kashmir, India.
FAU - Wani, Arshad Iqbal
AU  - Wani AI
AD  - Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, 
      Srinagar, Jammu and Kashmir, India.
FAU - Bashir, Mir Iftikhar
AU  - Bashir MI
AD  - Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, 
      Srinagar, Jammu and Kashmir, India.
LA  - eng
PT  - Case Reports
DEP - 20200407
PL  - India
TA  - J Hum Reprod Sci
JT  - Journal of human reproductive sciences
JID - 101473512
PMC - PMC7295258
OTO - NOTNLM
OT  - Multiple endocrine neoplasia type 1
OT  - multiple endocrine neoplasia type 1 gene
OT  - uterine leiomyomas
COIS- There are no conflicts of interest.
EDAT- 2020/06/25 06:00
MHDA- 2020/06/25 06:01
PMCR- 2020/01/01
CRDT- 2020/06/25 06:00
PHST- 2019/03/25 00:00 [received]
PHST- 2019/06/01 00:00 [revised]
PHST- 2019/11/22 00:00 [accepted]
PHST- 2020/06/25 06:00 [entrez]
PHST- 2020/06/25 06:00 [pubmed]
PHST- 2020/06/25 06:01 [medline]
PHST- 2020/01/01 00:00 [pmc-release]
AID - JHRS-13-75 [pii]
AID - 10.4103/jhrs.JHRS_42_19 [doi]
PST - ppublish
SO  - J Hum Reprod Sci. 2020 Jan-Mar;13(1):75-77. doi: 10.4103/jhrs.JHRS_42_19. Epub 
      2020 Apr 7.