Background

Sexual Interests and Hypogonadism in Prader-Willi Syndrome

Harry J Hirsch1, Talia Eldar-Geva2, Fortu Benarroch3, Orit Rubinstein1 , and Varda Gross-Tsur1

The Israel Multidisciplinary Prader-Willi Syndrome Clinic1Neuropediatric Unit, Department of Pediatrics, and 2Reproductive Endocrinology and Genetics Unit, Department of

Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; and 3Department of Child and Adolescent Psychiatry, Hadassah Mount Scopus Hospital, Jerusalem, Israel.

Printed by

• 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

Aims and Objectives

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

Study Population

• 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/m2): M - 34±14; F - 37±12

Pubertal Development

Males FemalesBreast Tanner stage

4.0±0.7 (3 – 5)

Testes (maximal length cm)

2.3±0.9 (1.0 - 4.0 )

Penile length (cm) 7.6±2.5 ( 3.0 – 11.0)

Pubic Hair Tanner stage

3.5±1.3 (1-5) 4.1±1.1 (1-5)

Reproductive Hormone Levels

Males FemalesLH (mIU/ml) 4.5±4.1

(0.1-12.7)2.2±2.3(0.1-5.9)

FSH (mIU/ml) 18.4±18.4(0.1-53.5)

5.2±3.8(0.1-10.5)

Testosterone (ng/ml) 1.8±1.1(0.3-3.9)

0.4±0.2(0.2-1.0)

Estradiol (pmol/l) 143.2±145.2(42-561)

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

Methods

• 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.

Results

Question: Is your body normally developed for your age?

Patient’s responses showed a negative correlation with IQ (p<0.038)

Questions: Have you gone on dates? Have you had a steady boy/girlfriend?

(Combined male and female answers)

Question (females): Would you like to receive medication in order to have regular menstrual periods?

Interest and expectations regarding marriage

• 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

• 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

Conclusions

Summary

AcknowledgementsThese studies were funded by grants from Pfizer, Pharmaceuticals and from the Prader-Willi Syndrome Association (USA)