Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism.
We report an unusual association of two rare conditions, the Silver-Russell syndrome and the Mayer-Rokitansky-Küster-Hauser syndrome, with extra endocrine anomalies. A 15-year old Silver-Russell syndrome girl was referred to our Unit because of primary amenorrhea and hirsutism of adrenal origin. A thorough assessment confirmed previous diagnoses and revealed the presence of diabetes, hyperinsulinism and a complete Mayer-Rokitansky-Küster-Hauser syndrome with an ectopic localization of both ovaries. Although initial medical treatment was not unsatisfactory, future medical, psychological and social implications are expected.
Bellver-Pradas
J
J
Department of Gynecologycal Endocrinology, Hospital Universitario La Fe, Valencia, Spain. jbellverp@sego.es
Cervera-Sánchez
J
J
Boldó-Roda
A
A
Martín-Cortés
A
A
Ferreres-Gómez
L
L
Serra-Serra
V
V
Romeu-Sarrió
A
A
D000293:Adolescent; D000568:Amenorrhea / Q000473:pathology*; D003920:Diabetes Mellitus / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006628:Hirsutism / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities