Ann Pediatr Endocrinol Metab.  2016 Mar;21(1):39-42. 10.6065/apem.2016.21.1.39.

Early onset of puberty in an obese boy with Klinefelter syndrome

• Cho BW
• Kwon SE
• Kim SK
• Lee T
• Han JY
• Lee JE

• KMID: 2161305
• DOI: http://doi.org/10.6065/apem.2016.21.1.39

Abstract

Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma.

Keyword

Klinefelter syndrome; Puberty; Child

MeSH Terms

Adolescent
Adult
Child
Humans
Hypogonadism
Klinefelter Syndrome*
Male*
Phenotype
Puberty*
Puberty, Delayed
Reference Values
Teratoma

Figure

• 

  Fig. 1 (A) Resected left testicular mass revealed a mature teratoma. The nodule in the testis showed mature squamous cell nests in the fibrotic stroma (H&E, ×200). (B) The testicular parenchyme showed atrophic seminiferous tubule without germ cells. The hyperplastic Leydig cells were noted (H&E, ×200).

Reference

1. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003; 88:622–626. PMID: 12574191.

2. Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013; 163C:55–63. PMID: 23345262.

3. Simpson JL, de la Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM Jr, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med. 2003; 5:460–468. PMID: 14614399.

4. Juul A, Aksglaede L, Bay K, Grigor KM, Skakkebaek NE. Klinefelter syndrome: the forgotten syndrome: basic and clinical questions posed to an international group of scientists. Acta Paediatr. 2011; 100:791–792. PMID: 21521364.

5. Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012; 366:443–453. PMID: 22296078.

6. Butler G. Klinefelter's syndrome does not cause delayed puberty. BMJ. 2013; 346:f518. PMID: 23364062.

7. Kurzrock EA, Tunuguntla HS, Busby JE, Gandour-Edwards R, Goldman LA. Klinefelter's syndrome and precocious puberty: a harbinger for tumor. Urology. 2002; 60:514. PMID: 12350505.

8. Wikstrom AM, Raivio T, Hadziselimovic F, Wikström S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. J Clin Endocrinol Metab. 2004; 89:2263–2270. PMID: 15126551.

9. Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res. 1985; 19:82–86. PMID: 3918293.

10. Topper E, Dickerman Z, Prager-Lewin R, Kaufman H, Maimon Z, Laron Z. Puberty in 24 patients with Klinefelter syndrome. Eur J Pediatr. 1982; 139:8–12. PMID: 6816603.

11. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res. 2008; 69:317–326. PMID: 18504390.

12. Paduch DA, Fine RG, Bolyakov A, Kiper J. New concepts in Klinefelter syndrome. Curr Opin Urol. 2008; 18:621–627. PMID: 18832949.

13. Wikstrom AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011; 25:239–250. PMID: 21397196.

14. Sokol RZ. It's not all about the testes: medical issues in Klinefelter patients. Fertil Steril. 2012; 98:261–265. PMID: 22704628.