Hypogonadism in Adult Males with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

被引：15

作者：

Pellikaan, Karlijn ^{[1
,2
,3
,4
]}

Ben Brahim, Yassine ^{[1
,2
,3
,4
]}

Rosenberg, Anna G. W. ^{[1
,2
,3
,4
]}

Davidse, Kirsten ^{[1
,2
,3
,4
]}

Poitou, Christine ^{[5
,6
,7
]}

Coupaye, Muriel ^{[5
,6
,7
]}

Goldstone, Anthony P. ^{[6
,8
,9
]}

Hoybye, Charlotte ^{[6
,7
,10
,11
]}

Markovic, Tania P. ^{[6
,12
,13
]}

Grugni, Graziano ^{[6
,7
,14
]}

Crino, Antonino ^{[6
,15
]}

Caixas, Assumpta ^{[6
,16
]}

Eldar-Geva, Talia ^{[17
,18
,19
]}

Hirsch, Harry J. ^{[17
,20
]}

Gross-Tsur, Varda ^{[19
,21
]}

Butler, Merlin G. ^{[22
]}

Miller, Jennifer L. ^{[23
]}

van den Berg, Sjoerd A. A. ^{[1
,24
]}

van der Lely, Aart J. ^{[1
]}

de Graaff, Laura C. G. ^{[1
,2
,3
,4
,5
,6
,7
]}

机构：

[1] Erasmus Univ, Div Endocrinol, Dept Internal Med, Med Ctr Rotterdam, NL-3015 GD Rotterdam, Netherlands

[2] Erasmus Univ, Div Endocrinol, Dept Internal Med, Med Ctr Rotterdam,Ctr Adults Rare Genet Syndromes, NL-3015 GD Rotterdam, Netherlands

[3] Dutch Ctr Reference Prader Willi Syndrome, NL-3015 GD Rotterdam, Netherlands

[4] Erasmus Univ, Acad Ctr Growth Disorders, Med Ctr Rotterdam, NL-3015 GD Rotterdam, Netherlands

[5] Hop La Pitie Salpetriere, AP HP, Nutr Dept, Rare Dis Ctr Reference Prader Willi Syndrome & Ob, F-75013 Paris, France

[6] Int Network Res Management & Educ Adults PWS INf, Cambridge, England

[7] ENDO ERN European Reference Network, Cambridge, England

[8] Hammersmith Hosp, PsychoNeuroEndocrinol Res Grp, Ctr Neuropsychopharmacol,Fac Med, Div Psychiat & Computat,Cogn & Clinical Neur,Dept, London W12 0NN, England

[9] Imperial Coll Hlthcare NHS Trust, Dept Endocrinol, London W12 0HS, England

[10] Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden

[11] Karolinska Univ Hosp, Dept Endocrinol, S-17176 Stockholm, Sweden

[12] Royal Prince Alfred Hosp, Metab Obes Serv, Camperdown, NSW 2050, Australia

[13] Univ Sydney, Fac Med & Hlth, Charles Perkins Ctr, Sydney, NSW 2006, Australia

[14] Div Auxol, Ist Auxologico Italiano, IRCCS, I-28824 Oggebbio, Italy

[15] Bambino Gesu Pediat Hosp, Res Inst, Reference Ctr Prader Willi Syndrome, I-00050 Palidoro Rome, Italy

[16] Univ Autonoma Barcelona, Inst dInvest Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Endocrinol & Nutr Dept, Sabadell 08208, Spain

[17] Israel Multidisciplinary Prader Willi Syndrome Cl, IL-9103102 Jerusalem, Israel

[18] Shaare Zedek Med Ctr, Dept Obstet & Gynecol, Reprod Endocrinol & Genet Unit, IL-9103102 Jerusalem, Israel

[19] Hebrew Univ Jerusalem, Sch Med, IL-9112102 Jerusalem, Israel

[20] Shaare Zedek Med Ctr, Dept Pediat, IL-9103102 Jerusalem, Israel

[21] Shaare Zedek Med Ctr, Dept Pediat, Neuropediat Unit, IL-9103102 Jerusalem, Israel

[22] Univ Kansas, Dept Psychiat Behav Sci & Pediat, Med Ctr, Kansas City, KS 66160 USA

[23] Univ Florida, Dept Pediat, Coll Med, Gainesville, FL 32610 USA

[24] Erasmus MC, Univ Med Ctr Rotterdam, Dept Clin Chem, NL-3015 GD Rotterdam, Netherlands

来源：

JOURNAL OF CLINICAL MEDICINE | 2021年 / 10卷 / 19期

关键词：

Prader-Willi syndrome; hypogonadism; pituitary gland; testosterone; obesity; puberty; TESTOSTERONE REPLACEMENT THERAPY; BODY-COMPOSITION; GROWTH-HORMONE; PUBERTAL DEVELOPMENT; HEART-FAILURE; ENDOCRINE; DIAGNOSIS; ASSOCIATION; ESTRADIOL; ESTROGENS;

D O I：

10.3390/jcm10194361

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health issues including muscle weakness, obesity, osteoporosis, and fatigue. Therefore, timely diagnosis and treatment of male hypogonadism is important. In this article, we share our experience with hypogonadism and its treatment in adult males with PWS and present a review of the literature. In order to report the prevalence and type of hypogonadism, treatment regimen and behavioral issues, we retrospectively collected data on medical interviews, physical examinations, biochemical measurements and testosterone replacement therapy (TRT) in 57 Dutch men with PWS. Fifty-six (98%) of the patients had either primary, central or combined hypogonadism. Untreated hypogonadism was associated with higher body mass index and lower hemoglobin concentrations. TRT was complicated by behavioral challenges in one third of the patients. Undertreatment was common and normal serum testosterone levels were achieved in only 30% of the patients. Based on the Dutch cohort data, review of the literature and an international expert panel discussion, we provide a practical algorithm for TRT in adult males with PWS in order to prevent undertreatment and related adverse health outcomes.

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页数：28

共 12 条

[1] Hypogonadism in Women with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Pellikaan, Karlijn
Ben Brahim, Yassine
Rosenberg, Anna G. W.
Davidse, Kirsten
Poitou, Christine
Coupaye, Muriel
Goldstone, Anthony P.
Hoybye, Charlotte
Markovic, Tania P.
Grugni, Graziano
Crino, Antonino
Caixas, Assumpta
Eldar-Geva, Talia
Hirsch, Harry J.
Gross-Tsur, Varda
Butler, Merlin G.
Miller, Jennifer L.
van der Kuy, Paul-Hugo M.
van den Berg, Sjoerd A. A.
Visser, Jenny A.
van der Lely, Aart J.
de Graaff, Laura C. G.
JOURNAL OF CLINICAL MEDICINE, 2021, 10 (24)
[2] Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
van Abswoude, Denise H.
Pellikaan, Karlijn
Nguyen, Naomi
Rosenberg, Anna G. W.
Davidse, Kirsten
Hoekstra, Franciska M. E.
Rood, Ilse M.
Poitou, Christine
Grugni, Graziano
Hoybye, Charlotte
Markovic, Tania P.
Caixas, Assumpta
Crino, Antonino
van den Berg, Sjoerd A.
van der Lely, Aart J.
de Graaff, Laura C. G.
FRONTIERS IN ENDOCRINOLOGY, 2023, 14
[3] Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
van Abswoude, Denise H.
Pellikaan, Karlijn
Rosenberg, Anna G. W.
Davidse, Kirsten
Coupaye, Muriel
Hoybye, Charlotte
Markovic, Tania P.
Grugni, Graziano
Crino, Antonino
Caixas, Assumpta
Poitou, Christine
Mosbah, Helena
Weir, Tessa
van Vlimmeren, Leo A.
Rutges, Joost P. H. J.
De Klerk, Luuk W. L.
Zillikens, Carola
van der Lely, Aart J.
de Graaff, Laura C. G.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, : 59 - 84
[4] Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review
Pellikaan, Karlijn
Nguyen, Naomi Q. C.
Rosenberg, Anna G. W.
Coupaye, Muriel
Goldstone, Anthony P.
Hoybye, Charlotte
Markovic, Tania
Grugni, Graziano
Crino, Antonino
Caixas, Assumpta
Poitou, Christine
Corripio, Raquel
Nieuwenhuize, Rosa M.
Van der Lely, Aart J.
de Graaff, Laura C. G.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2023, 108 (12): : E1720 - E1730
[5] Thyroid Function in Adults with Prader-Willi Syndrome; a Cohort Study and Literature Review
Pellikaan, Karlijn
Snijders, Fleur
Rosenberg, Anna G. W.
Davidse, Kirsten
van den Berg, Sjoerd A. A.
Visser, W. Edward
van der Lely, Aart J.
de Graaff, Laura C. G.
JOURNAL OF CLINICAL MEDICINE, 2021, 10 (17)
[6] Sleep Disorders in Adults with Prader-Willi Syndrome: Review of the Literature and Clinical Recommendations Based on the Experience of the French Reference Centre
Dodet, Pauline
Sanapo, Federica
Leu-Semenescu, Smaranda
Coupaye, Muriel
Bellicha, Alice
Arnulf, Isabelle
Poitou, Christine
Redolfi, Stefania
JOURNAL OF CLINICAL MEDICINE, 2022, 11 (07)
[7] Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review (vol 11, 1168648, 2023)
van Abswoude, Denise H.
Pellikaan, Karlijn
Nguyen, Naomi
Rosenberg, Anna G. W.
Davidse, Kirsten
Hoekstra, Franciska M. E.
Rood, Ilse M.
Poitou, Christine
Grugni, Graziano
Hoybye, Charlotte
Markovic, Tania P.
Caixas, Assumpta
Crino, Antonino
van den Berg, Sjoerd A. A.
van der Lely, Aart J.
de Graaff, Laura C. G.
FRONTIERS IN ENDOCRINOLOGY, 2024, 15
[8] "Bone health in adults with Prader-Willi syndrome: clinical recommendations based on a multicenter cohort study" (vol 108, pg 59, 2022)
van Abswoude, D. H.
Pellikaan, K.
Hoshino, Y.
Rosenberg, A. G. W.
Davidse, K.
Coupaye, M.
Hoybye, C.
Markovic, T. P.
Grugni, G.
Crino, A.
Caixas, A.
Poitou, C.
Mosbah, H.
Weir, T.
van Vlimmeren, L. A.
Rutges, J. P. H. J.
De Klerk, L. W. L.
Zillikens, M. C.
van der Lely, A. J.
de Graaff, L. C. G.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2023, 108 (02): : e30 - e30
[9] Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
Rosenberg, Anna G. W.
Wellink, Charlotte M.
Garcia, Juan M. Tellez
Pellikaan, Karlijn
Van Abswoude, Denise H.
Davidse, Kirsten
Van Zutven, Laura J. C. M.
Bruggenwirth, Hennie T.
Resnick, James L.
Van der Lely, Aart J.
De Graaff, Laura C. G.
JOURNAL OF CLINICAL MEDICINE, 2022, 11 (14)
[10] Literature review and recommendations for clinical application small-bowel capsule endoscopy, based on a panel discussion by international experts (vol 39, pg 895, 2007)
Mergener, K.
Ponchon, T.
Gralnek, I.
Heresbach, Denis
ENDOSCOPY, 2007, 39 (12) : 1105 - 1105

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