PMID- 23869310
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130722
LR  - 20211021
IS  - 2230-8210 (Print)
IS  - 2230-9500 (Electronic)
IS  - 2230-9500 (Linking)
VI  - 17
IP  - 3
DP  - 2013 May
TI  - Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with 
      a 46, XX karyotype: A case report and review of literature.
PG  - 505-8
LID - 10.4103/2230-8210.111663 [doi]
AB  - Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the 
      Mullerian structures are absent or rudimentary. It is also associated with 
      anomalies of the genitourinary and skeletal systems. Its association with gonadal 
      dysgenesis is extremely rare and appears to be fortuitous, independent of 
      chromosomal anomalies. We report such a case in a 21-year-old girl who presented 
      primary amenorrhea and impuberism. The endocrine study revealed 
      hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome 
      Y was detected at the fluorescence in situ hybridization (FISH) analysis. 
      Internal genitalia could not be identified on the pelvic ultrasound and pelvic 
      magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis 
      and MRKH syndrome. There were no other associated malformations. Hormonal 
      substitution therapy with oral conjugated estrogens was begun. The patient has 
      been under regular follow-up for the last two years and is doing well.
FAU - Kebaili, Sahbi
AU  - Kebaili S
AD  - Department of Obstetrics and Gynecology, HediChaker Hospital, 3029 Sfax, Tunisia.
FAU - Chaabane, Kais
AU  - Chaabane K
FAU - Mnif, Mouna Feki
AU  - Mnif MF
FAU - Kamoun, Mahdi
AU  - Kamoun M
FAU - Kacem, Faten Hadj
AU  - Kacem FH
FAU - Guesmi, Nouha
AU  - Guesmi N
FAU - Gassara, Hichem
AU  - Gassara H
FAU - Dammak, Abdallah
AU  - Dammak A
FAU - Louati, Doulira
AU  - Louati D
FAU - Amouri, Habib
AU  - Amouri H
FAU - Guermazi, Mohamed
AU  - Guermazi M
LA  - eng
PT  - Case Reports
PL  - India
TA  - Indian J Endocrinol Metab
JT  - Indian journal of endocrinology and metabolism
JID - 101555690
PMC - PMC3712384
OTO - NOTNLM
OT  - Gonadal dysgenesis
OT  - Mayer-Rokitansky-Kuster-Hauser syndrome
OT  - karyotype
COIS- Conflict of Interest: None declared
EDAT- 2013/07/23 06:00
MHDA- 2013/07/23 06:01
PMCR- 2013/05/01
CRDT- 2013/07/23 06:00
PHST- 2013/07/23 06:00 [entrez]
PHST- 2013/07/23 06:00 [pubmed]
PHST- 2013/07/23 06:01 [medline]
PHST- 2013/05/01 00:00 [pmc-release]
AID - IJEM-17-505 [pii]
AID - 10.4103/2230-8210.111663 [doi]
PST - ppublish
SO  - Indian J Endocrinol Metab. 2013 May;17(3):505-8. doi: 10.4103/2230-8210.111663.