Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.
OBJECTIVE
To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.


METHODS
Case report.


METHODS
Unit of Endocrinology, Fundación Hospital Alcorcón. Madrid (Spain).


METHODS
A 17-year-old woman who presented with primary amenorrhea and lack of mammary development.


METHODS
An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of Y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies.


METHODS
Anatomic, endocrine, and genetic description of the patient.


RESULTS
The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no Y chromosome was found in FISH analysis.


CONCLUSIONS
To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.
Gorgojo
Juan José
JJ
Unit of Endocrinology, Fundación Hospital of Alcorcón, Alcorcón, Spain. jjgorgojo@fhalcorcon.es
Almodóvar
Francisca
F
López
Elena
E
Donnay
Sergio
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002874:Chromosome Mapping; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome