Agnieszka Białka1, Aneta Gawlik2, Agnieszka Drosdzol-Cop3, Krzysztof Wilk1, Ewa Małecka-Tendera2, Violetta Skrzypulec-Plinta1. 1. School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland. 2. Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland. 3. School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland. Electronic address: cor111@poczta.onet.pl.
Abstract
BACKGROUND: Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. CASE: A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. SUMMARY AND CONCLUSION: Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.
BACKGROUND:Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. CASE: A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. SUMMARY AND CONCLUSION: Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.