Objective: To study the spectrum of chromosomal anomalies in three cases as related to the phenotypic variability of patients with anomalies of disorder of sexual development.
Female 18 years old with secondary amenorrhea, stigmata of Turners syndrome, Tanner stage II. Ultrasound showed streak gonads. Hormonal analysis revealed elevated levels of FSH, LH and a low plasma estradiol level. The chromosomal investigation showed gonosomal mosaicism 45,X(40%)/46,XY(60%). FISH analysis identify the presente of clone XY in 65% of the cells. Molecular analysis for 20 polymorphic markers and SRY region of Y chromosome revealed normal structure. The patient was reffered for gonadectomy.
Female 20 years old with primary amenorrhea, showed infantile but otherwise normal external genitalia. Gonadal failure is indicated by high levels of serum FSH, LH and a very low plasma estradiol level. Using laparoscopy in the right part were observed one small tumor and histological analysis from gonadal biopsy revealed characteristic aspect of gonadoblastoma. Cytogenetic analysis evidentiate in 30 metaphases examinated the karyotype 46,XY. The patient was diagnosed with Swyer syndrome and she had a gonadectomy.
Newborn investigated for ambiguity of the phenotypic sex and for establishing the gender. The patient presented labioscrotum, micropenis and hypospadias. Ultrasonography did not reveal the presence of the testes in the scrotum nor along the inguinal canals. The gonads were discovered by laparascopy and histopathological investigation revealed immature testes. Normal values of testosterone and FSH were found. The cytogenetic analysis showed the presence of chromosome Y in all evaluated cells. FISH analysis was performed to evaluate the gonosomal chromosomes regarding SRY gene. The SRY gene was found on the Y chromosome. The surgical intervention and testosterone therapy were recommended.
Detailed molecular cytogenetic characterization and the clinical follow-up of the patients are very useful in defining the phenotypic range of these chromosomal patterns.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology