Turner Syndrome associated with Mayer-Rokitansky-KusterHauser Syndrome: A case report and review of related literature
Philippine Journal of Reproductive Endocrinology and Infertility
;
: 39-44, 2023.
Article
in English
| WPRIM
| ID: wpr-1005347
ABSTRACT
@#Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome are the most common causes of primary amenorrhea. However, mullerian agenesis in patients with Turner syndrome is rare, with only 15 reported cases worldwide. Described in this report is an 18-year-old female who presented with primary amenorrhea, absent secondary sexual characteristics, short stature, webbed neck, and shield chest. Work up revealed hypergonadotropic hypogonadism, absence of normal ovaries and uterus, and hypothyroidism. She had a 45,X karyotype and was diagnosed with a very rare case of Turner syndrome with associated Mayer-Rokitansky-Kuster-Hauser syndrome. Early detection of the etiology of amenorrhea is critical for prompt management and initiation of hormonal replacement. She was counseled on the possible systemic problems associated with her condition. The importance of regular follow-up and continuous care were also emphasized. With the coexistence of these two conditions, adoption is the only option for having children in the Philippines, where oocyte donation and uterine transplantation are currently unavailable.
Search on Google
Index:
WPRIM (Western Pacific)
Main subject:
Turner Syndrome
Language:
English
Journal:
Philippine Journal of Reproductive Endocrinology and Infertility
Year:
2023
Type:
Article
Similar
MEDLINE
...
LILACS
LIS