PMID- 35340794
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220329
IS  - 1735-8949 (Print)
IS  - 1735-9392 (Electronic)
IS  - 1735-9392 (Linking)
VI  - 15
IP  - 4
DP  - 2021 Dec
TI  - A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of 
      the Vas Deferens.
PG  - 266-270
LID - 10.18502/jfrh.v15i4.7895 [doi]
AB  - Objective: This study aimed to investigate the cause of primary infertility in a 
      rare case with unilateral absence of vas deferens. Case report : A 35-year-old 
      man was presented to the Infertility Clinic at the National Center of Maternal 
      and Child Health (NCMCH) with an eight-year history of primary infertility. 
      Clinical examination showed a normal intelligence with a coarse facial appearance 
      and small testicles. Hormonal tests detected elevated levels of prolactin (PRL), 
      follicle stimulating hormone (FSH), and luteinizing hormone (LH), and low levels 
      of testosterone. Chromosomal analysis with fluorescence in situ hybridization 
      (FISH) revealed a 46XX with SRY (sex-determining region Y) positive karyotype 
      with translocation of the SRY gene (46XX der(X)t(X:Y)(p11.1:p11.3)(SRY+)). 
      Magnetic resonance imaging (MRI) revealed bilateral seminal vesicles atrophy and 
      agenesis of the vas deferens on the right side, which is rarely found in 46, XX 
      male syndrome. Conclusion: Although 46XX testicular disorder of sexual 
      development (DSD) cases are rare, multiple aspects of the clinical examinations 
      are important to make an accurate diagnosis and to provide proper genetic 
      counseling and guidance to patients in their long-term management.
CI  - Copyright (c) 2021 Tehran University of Medical Sciences. Published by Tehran 
      University of Medical Sciences.
FAU - Batmunkh, Ganbayar
AU  - Batmunkh G
AD  - Division of Medical Genetics, National Center of Maternal and Child Health, 
      Ulaanbaatar, Mongolia.
FAU - Myagmartseren, Purevtogtokh
AU  - Myagmartseren P
AD  - Infertility clinic, National Center of Maternal and Child Health, Ulaanbaatar, 
      Mongolia.
FAU - Bayarsaikhan, Tuul
AU  - Bayarsaikhan T
AD  - Division of Medical Genetics, National Center of Maternal and Child Health, 
      Ulaanbaatar, Mongolia.
FAU - Dalkh, Tserendagva
AU  - Dalkh T
AD  - International School of Mongolian Medicine, Mongolian National University of 
      Medical Sciences, Ulaanbaatar, Mongolia.
FAU - Tumurkhuu, Munkhtuya
AU  - Tumurkhuu M
AD  - Department of Chemistry, North Carolina State University, North Carolina, USA.
LA  - eng
PT  - Case Reports
PL  - Iran
TA  - J Family Reprod Health
JT  - Journal of family & reproductive health
JID - 101496684
PMC - PMC8897815
OTO - NOTNLM
OT  - Chromosomal Aberrations; Male Infertility; Magnetic Resonance Imaging; Sexual 
      Development; 46
OT  - XX Testicular Disorders of Sex Development
EDAT- 2022/03/29 06:00
MHDA- 2022/03/29 06:01
PMCR- 2021/12/01
CRDT- 2022/03/28 05:16
PHST- 2022/03/28 05:16 [entrez]
PHST- 2022/03/29 06:00 [pubmed]
PHST- 2022/03/29 06:01 [medline]
PHST- 2021/12/01 00:00 [pmc-release]
AID - JFRH-15-266 [pii]
AID - 10.18502/jfrh.v15i4.7895 [doi]
PST - ppublish
SO  - J Family Reprod Health. 2021 Dec;15(4):266-270. doi: 10.18502/jfrh.v15i4.7895.