| CASE REPORT |
|
| Year : 2016 | Volume
: 1
| Issue : 2 | Page : 35-38 |
|
|
A rare case of 46XX,t(X;11)(q24;q23.3) with premature ovarian insufficiency
Kanchan Murarka1, Deepak Goenka1, Mohan Lal Goenka1, Parth S Shah2
1 Department of Reproductive Medicine, Institute of Human Reproduction, Guwahati, Assam, India
2 Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India
Correspondence Address:
Kanchan Murarka
Department of Reproductive Medicine, Institute of Human Reproduction, Bharalumukh, Guwahati, Assam
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ajiac.ajiac_9_17
|
|
|
Here, we report a rare case of chromosomal abnormality with translocation between bands Xq24 and 11q23.3 leading to premature ovarian insufficiency (POI). POI can occur due to various causes. Studies have shown that 10%–12% of women with POI have chromosomal abnormalities. This patient presented to us with secondary amenorrhea for the past 3 years. She had attained menarche at 13 years and had regular menstrual cycles for 9 years before suffering from secondary amenorrhea. She had no family history of POI. Her karyotype revealed 46XX,t(X;11)(q24;q23.3). Other investigations showed hypoestrogenism, raised follicle-stimulating hormone, low volume ovaries, small sized uterus, and cholelithiasis. Laparoscopic cholecystectomy was done along with pelvic laparoscopy and hysteroscopy. Sequential estrogen and progesterone was given to the patient for 3 months. Following that, in vitro fertilization with oocyte donation was done which resulted into positive beta-human chorionic gonadotropin.
|
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
