Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: An observational study

• Published in: American journal of medical genetics. Part A 2013-09, Vol.161A (9), p.2167-2173
• Main Authors: Kido, Yasuhiro, Sakazume, Satoru, Abe, Yoshiko, Oto, Yuji, Itabashi, Hisashi, Shiraishi, Masahisa, Yoshino, Atsunori, Tanaka, Yuriko, Obata, Kazuo, Murakami, Nobuyuki, Nagai, Toshiro
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age; Aggression; Androgens; Behavior; Behavior - drug effects; Body composition; Body Composition - drug effects; Body fat; Body mass; Body Mass Index; Bone mass; Bone mineral density; Chromosome 15; Drug therapy; Follicle-stimulating hormone; Genetic disorders; Hormone Replacement Therapy; Humans; Hypogonadism; Lean body mass; Male; Middle Aged; Observational studies; Prader-Willi syndrome; Prader-Willi Syndrome - blood; Prader-Willi Syndrome - drug therapy; Secondary sexual characters; Sexual Maturation - drug effects; Testosterone; Testosterone - pharmacology; Testosterone - therapeutic use; testosterone replacement therapy; Treatment Outcome; Young Adult
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36048

Prader–Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11‐q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle mass. Testosterone replacement (TR) remains controversial due to concerns regarding behavioral problems. To evaluate the effects of TR on secondary sexual characteristics, body composition, and behavior in adult males with PWS, 22 male PWS patients over the age of 16 with behavioral scores of less than grade 4 on the Modified Overt Aggression Scale (MOAS) underwent monthly intramuscular TR (125 mg). Pubertal change, body composition and behavior were evaluated before and after 24 months of therapy. Serum testosterone, LH, and FSH did not change. Increased pubic hair was observed in 16 of 22 patients (72.7%). Percent body fat decreased from 47.55 ± 2.06% to 39.75 ± 1.60% (n = 18) (P = 0.018). Bone mineral density increased from 0.8505 ± 0.0426 g/cm2 to 0.9035 ± 0.0465 g/cm2 (n = 18) (P = 0.036), and lean body mass increased from 18093.4 ± 863.0 g to 20312.1 ± 1027.2 g (n = 18) (P = 0.009). The MOAS was unchanged, from 4.5 ± 2.0 at the beginning of the study to 3.0 ± 1.7 at the end of study indicating no increase in aggression. No behavioral problems were observed. Based on this pilot study, TR with 125 mg monthly is a potentially safe and useful intervention for adult males with PWS. © 2013 Wiley Periodicals, Inc.