Fort- und Weiterbildung

Abstracts des Münchener Symposiums für Kinder- und Jugendgynäkologie
Anlässlich des 25-jährigen Bestehens der Arbeitsgemeinschaft vom 23. bis 25. Oktober 2003, Frauenklinik, Klinikum Großhadern, Ludwig-Maximilians-Universität, München


„Der besondere Fall“ 
Partial duplication of Xp in a phenotypically normal female with amenorrhea

Case presentation:
A 19 year old female was referred to our outpatient clinic because of amenorrhea. Height was at 97. percentile, BMI 22 kg/m2. She revealed primary amenorrhea without Ullrich-Turner stigmata. Physical examination showed normal external genitalia, Thanner stages B IV, and P V, respectively. Medical history provided evidence for a delay in pubarche and thelarche. Menarche had been initiated at age 17 by use of HRT. No evidence of deafness, mental defects, including epilepsia or cardiovascular malformations was found. Vaginal ultrasound failed to show ovaries, a small uterus with faint endometrial lining was seen. In laparoscopy bilateral gonadal streaks were found, in histological examination no primordial follicles were seen. Hormonal analysis showed markedly elevated LH and FSH levels, with low E2 and testosterone levels. TSH, T3, T4, fT3, and fT4 as well as PRL were normal. No autoantibodies against thyroid gland, islet cell and steroid producing cells were found. To study the chromosomal constitution in this case an extensive genetic analysis was performed using lymphocytes taken from peripheral blood. The chromosomal analysis on cultured lymphocytes revealed a very rare female karyotype with evidence of partial duplication of the X-chromosome [46, X, inv dup(X) (pter->q28::p22.13->pter).ish inv dup(X)(wcpY+, TelXq/Yq, wcpX+, wcpY+)].

Pure gonadal dysgenesis was found in this patient with a 46, XX karyotpye, normal female genitalia, bilateral streak gonads, tall stature, lack of other somatic stigmata of gonadal dsygenesis, and increased FSH and LH levels. The term gonadal dysgenesis is used for conditions in which gonadal differentiation is aberrant. Pure gonadal dysgenesis may occur with either 46, XX or even a 46, XY karyotype. In the patient presented herein a subtle alteration of the X chromosome was found by use of FISH technology and various hybridisation probes. The identification of structurally abnormal chromosomes has been revolutionized by novel genetic technology in recent years. Only by use of these tools we were able to characterize the partial duplication of the X chromosome, i.e. a X-chromosome disorder as the cause of pure gonadal dysgenesis. Therefore, data from an extensive genetic analysis provided a clear rationale in this case. Overall, medical and psychosocial support including family education in patients with the syndrome of gonadal dysgenesis must be emphasized. Treatment and follow-up in a special clinical setting is of considerable importance and is therefore strongly recommended. Grant Support: SFB 518.

Dr. med. S. Claudi-Boehm, B.O. Boehm, C. Brucker, G. Barbi und R. Kreienberg,