Sexual Interests and Hypogonadism in Prader-Willi Syndrome Harry

Sexual Interests and Hypogonadism in Prader-Willi Syndrome Harry J Hirsch 1, Talia Eldar-Geva 2, Fortu Benarroch 3, Orit Rubinstein 1 , and Varda Gross-Tsur 1 The Israel Multidisciplinary Prader-Willi Syndrome Clinic 1 Neuropediatric Unit, Department of Pediatrics, and 2 Reproductive Endocrinology and Genetics Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; and 3 Department of Child and Adolescent Psychiatry, Hadassah Mount Scopus Hospital, Jerusalem, Israel. Reproductive Hormone Levels Background • Sexual development and function are important factors in quality of life (QOL) assessment • Hypogonadal PWS individuals might be expected to have little interest in romantic or sexual activities • There are, to date, no published reports describing sexual interests and activity in PWS Males Females LH (m. IU/ml) 4. 5± 4. 1 (0. 1 -12. 7) 2. 2± 2. 3 (0. 1 -5. 9) FSH (m. IU/ml) 18. 4± 18. 4 (0. 1 -53. 5) 5. 2± 3. 8 (0. 1 -10. 5) 1. 8± 1. 1 (0. 3 -3. 9) 0. 4± 0. 2 (0. 2 -1. 0) Testosterone (ng/ml) 143. 2± 145. 2 (42 -561) Estradiol (pmol/l) DHEA-S (µg/dl) 265. 9± 146. 6 (122 -466) N: 100 -400 194. 6± 105. 6 (15 -451) N: 76 -226 Inhibin B (pg/ml) 31. 2± 31. 8 (8 – 80) N: 95 - 323 18. 5± 16. 1 (7 -54) N: 20 -261 Aims and Objectives Question (females): Would you like to receive medication in order to have regular menstrual periods? Methods Interview PWS young adults to evaluate: • Satisfaction with physical development • Romantic and sexual social interactions and experiences • Expectations regarding marriage • Interest in receiving hormonal replacement therapy on the part of PWS men and women • We designed a questionnaire to use as a basis for structured interviews in our PWS population. • Each question was explained by the interviewer in language appropriate for each patient’s level of understanding. Question: Is your body normally developed for your age? 100% • 27 PWS adolescents and adults • 13 males, 14 females • Age (mean±SD, range): 23± 5 (17 – 32) yrs • Genetic Dg: DEL (15), UPD (11), IC (1) • IQ: 74± 15 (50 – 100) • Height (cm): M - 156± 6; F - 143± 10 • BMI (kg/m 2): M - 34± 14; F - 37± 12 yes 90% no yes no no response 2 6 6 Summary Results Study Population Interest and expectations regarding marriage no response 80% 70% 60% 50% 40% 30% 20% 10% • IQ correlated negatively with satisfaction regarding physical development and positively with interest in romantic activities. • 40% - 50% of PWS young adults had gone on dates and kissed romantically. • All of the males and 64% of the females would like to get married. • 43% of PWS females wanted medication to achieve or maintain regular menses • 77% of PWS males desired hormonal medication to increase penis size 0% males Pubertal Development Males Breast Tanner stage Testes (maximal length cm) females Patient’s responses showed a negative correlation with IQ (p<0. 038) Females 4. 0± 0. 7 (3 – 5) Questions: Have you gone on dates? Have you had a steady boy/girlfriend? 2. 3± 0. 9 (1. 0 - 4. 0 ) Penile length (cm) 7. 6± 2. 5 ( 3. 0 – 11. 0) 100% yes no no response 90% Pubic Hair Tanner 3. 5± 1. 3 (1 -5) stage 4. 1± 1. 1 (1 -5) 80% 70% 60% 50% 40% 30% 20% 10% Acknowledgements These studies were funded by grants from Pfizer, Pharmaceuticals and from the Prader-Willi Syndrome Association (USA) Conclusions • Despite hypogonadism, most PWS young adults have sexual and romantic interests and experience • Recognition of these interests is important in order to provide anticipatory guidance and sex education • Androgen replacement should be considered for most PWS men and contraception might be indicated for some PWS women • Future studies should examine effects of sex hormone replacement on behavior and quality of life in PWS adolescents and adults 0% Dating? Steady boy/girl friend? (Combined male and female answers) Printed by