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Title: Single-center real-life experience with testosterone treatment in adult men with Prader-Willi syndrome.
Austin Authors: Nolan, Brendan James ;Proietto, Joseph ;Sumithran, Priya 
Affiliation: Medicine (University of Melbourne)
Department of Medicine (St Vincent's), University of Melbourne, Melbourne, Victoria, Australia..
Issue Date: 2022
Date: 2022
Publication information: American Journal of Medical Genetics. Part A 2022; 188(9): 2637-2641
Abstract: Hypogonadism is the most frequent hormonal deficiency in individuals with Prader-Willi syndrome (PWS). This often necessitates testosterone treatment, but limited data are available to guide testosterone treatment in adult men with PWS. We aimed to evaluate the serum testosterone concentrations and adverse effects of testosterone treatment in individuals with PWS attending a specialist obesity management service. A retrospective audit was undertaken at Austin Health, Melbourne between January 2010 and April 2021. Main outcome measures were testosterone formulation and dose, serum total testosterone concentration, and prevalence of polycythemia and behavioral disturbance. Data were available for eight individuals with median baseline age 19 years (range, 19-42) and BMI 37 kg/m2 (range, 27-71). Six men had obstructive sleep apnea; none were smokers. Baseline testosterone concentration was 1.8 nmol/L (IQR, 1.1-3.3) with hematocrit 0.43. Testosterone formulations were intramuscular testosterone undecanoate (TU) 1000 mg (n = 5), transdermal testosterone gel 50 mg daily (n = 1), and oral TU 80-120 mg daily (n = 2). Median total testosterone concentration was 9.7 nmol/L (IQR, 8.5-14.7). Nine of 25 (36%) hematocrit results in six patients measured >0.50 (range, 0.50-0.56). Intramuscular TU was well tolerated and was the only formulation to achieve serum total testosterone concentrations in the adult male reference range. Worsening behavioral disturbance resulted in treatment discontinuation in one individual. Our experience reinforces the need to regular monitoring of hematocrit in men with PWS treated with testosterone. However, a worsening of behavior problems was uncommon in this series.
DOI: 10.1002/ajmg.a.62770
ORCID: 0000-0001-8836-165X
Journal: American journal of medical genetics. Part A
PubMed URL: 35532976
PubMed URL:
Type: Journal Article
Subjects: Prader-Willi syndrome
Appears in Collections:Journal articles

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