CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT.
Journal
AACE clinical case reports
ISSN: 2376-0605
Titre abrégé: AACE Clin Case Rep
Pays: United States
ID NLM: 101670593
Informations de publication
Date de publication:
Historique:
received:
04
06
2019
accepted:
08
07
2019
entrez:
23
1
2020
pubmed:
23
1
2020
medline:
23
1
2020
Statut:
epublish
Résumé
Prader-Willi syndrome (PWS) is a rare genetic neuroendocrine disorder characterized by hypotonia, obesity, short stature, and mental retardation. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty is rarely seen. This study reports the clinical, biochemical, and histologic findings in 2 boys with PWS who developed central precocious puberty. Both boys were started on growth hormone therapy during the first years of life according to the PWS indication. They had both bilateral cryptorchidism at birth and had orchidopexy in early childhood. Retrospective histologic analysis of testicular biopsies demonstrated largely normal tissue architecture and germ cell maturation, but severely decreased number of prespermatogonia in one of the patients. Both boys had premature adrenarche around the age of 6. Precocious puberty was diagnosed in both boys with enlargement of testicular volume (>3 mL), signs of virilization and a pubertal response to a gonadotropin-releasing hormone (GnRH) test and they were both treated with GnRH analog. The cases described here displayed typical characteristics for PWS, a considerable heterogeneity of the hypothalamic-pituitary function, as well as testicular histology. Central precocious puberty is extremely rare in PWS boys, but growth hormone treatment may play a role in the pubertal timing.
Identifiants
pubmed: 31967069
doi: 10.4158/ACCR-2019-0245
pmc: PMC6873836
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e352-e356Informations de copyright
Copyright © 2019 AACE.
Déclaration de conflit d'intérêts
DISCLOSURE The authors have no multiplicity of interest to disclose.
Références
Hum Reprod. 2014 Aug;29(8):1637-50
pubmed: 24908673
J Clin Endocrinol Metab. 2019 Jul 1;104(7):2770-2776
pubmed: 30840065
Eur J Pediatr. 2008 Dec;167(12):1455-8
pubmed: 18301920
J Urol. 2014 Apr;191(4):1084-9
pubmed: 24095908
J Urol. 2008 Oct;180(4 Suppl):1800-4
pubmed: 18721940
Eur J Pediatr. 2003 May;162(5):327-33
pubmed: 12692714
Acta Paediatr. 1999 Nov;88(11):1295-7
pubmed: 10591439
J Pediatr Endocrinol Metab. 2013;26(11-12):1201-4
pubmed: 23740678
Cell Rep. 2018 Nov 13;25(7):1924-1937.e4
pubmed: 30428358
Clin Oncol (R Coll Radiol). 1990 Mar;2(2):117
pubmed: 2261394
Clin Endocrinol (Oxf). 2011 Jul;75(1):83-9
pubmed: 21521261
Brain Struct Funct. 2017 Jan;222(1):341-363
pubmed: 27072946
Clin Endocrinol (Oxf). 2012 Jan;76(1):72-7
pubmed: 21718342
Arch Dis Child. 2002 Sep;87(3):215-20
pubmed: 12193430
Med Pediatr Oncol. 1999 Jan;32(1):73-4
pubmed: 9917762
J Clin Endocrinol Metab. 2009 Jul;94(7):2262-8
pubmed: 19401370
Arch Endocrinol Metab. 2016 Nov-Dec;60(6):596-600
pubmed: 27982202
J Urol. 2015 Jan;193(1):291-8
pubmed: 25109686
J Pediatr Endocrinol Metab. 2008 May;21(5):495-500
pubmed: 18655533
J Clin Endocrinol Metab. 2006 Jan;91(1):169-75
pubmed: 16263828