Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page
Users Online:: 551

 Table of Contents  
Year : 2013  |  Volume : 16  |  Issue : 1  |  Page : 32-34

Klinefelter's syndrome: Report of a case from Sokoto, Northern Nigeria and review of literature

1 Department of Medicine, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria
2 Department of Anatomy, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria
3 Department of Histopathology, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria
4 Department of Surgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria

Date of Web Publication17-May-2013

Correspondence Address:
Anas A Sabir
Department of Medicine,Usmanu Danfodiyo University Teaching Hospital, Sokoto 234
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1118-8561.112070

Rights and Permissions

Herein, we report, review and discuss the literature on Klinefelter's syndrome (KS) with our findings during an out-patient medical clinic at Usmanu Danfodiyo University Teaching Hospital Sokoto, Nigeria. The aim of the report is to create awareness and highlight to clinicians, the occurrence of KS in patients with infertility.

Keywords: Eunuchoidism, gynaecomastia, hypogonadism, Klinefelter′s syndrome.

How to cite this article:
Sabir AA, Zagga AD, Sahabi SM, Agwu PN. Klinefelter's syndrome: Report of a case from Sokoto, Northern Nigeria and review of literature. Sahel Med J 2013;16:32-4

How to cite this URL:
Sabir AA, Zagga AD, Sahabi SM, Agwu PN. Klinefelter's syndrome: Report of a case from Sokoto, Northern Nigeria and review of literature. Sahel Med J [serial online] 2013 [cited 2023 Sep 24];16:32-4. Available from: https://www.smjonline.org/text.asp?2013/16/1/32/112070

  Introduction Top

Klinefelter's Syndrome (KS) was first described in 1942 as a syndrome characterized by gynaecomastia, small and firm testes, azoospermia, and elevated levels of serum gonadotropins. [1] It is the most common genetic form of primary hypogonadism, affecting approximately 0.1-0.2% of the male population. [2] KS present with hypogonadism and infertility with a wide phenotypical spectrum and is usually diagnosed at late puberty or in adulthood on the basis of infertility, symptoms and signs of hypogonadism, or both. [3],[4]

  Case Report Top

A 40 year old manpresented with gynaecomastia that was noticed 20 years ago. It started during puberty and has not regressed since then; nogalactorrhoea. There was associated history of reduced libido, erectile dysfunction, and primary infertily. No history of testicular injury before. Childhood and puberty were reported to be normal. There was no family history of endocrine abnormalities.

Examination revealed bilateral gynaecomastia [Figure 1], decreased body and absent facial hair, female pattern of hair distribution, atrophic testes, eunuchoidism [arm span (194 cm) and height (182 cm)].
Figure 1: Gynaecomastia

Click here to view

Hormonal assay revealed hypergonadotrophichy­pogonadism on the basis of serum total testosterone (0.78 ng/ml), Luteinizing Hormone (16.8 miu/m), and FSH (67.6 miu/ml).

Testicular biopsy revealed few seminiferous tubules with thickened basement membrane. Many of the tubules exhibit complete hyalinization with associated hyperplasia of the interstitial cells of Leydig [Figure 2].
Figure 2: Photomicrograph of testicular biopsy showing in clockwise direction tubular hyalization, leydigs cell hyperplasia and basement membrane thickening. Hxe {Mag ×200}

Click here to view

On the basis of the data collected, an assessment of KS was made and the patient was placed on testosterone replacement therapy. The patient after testosterone replacement treatment made remarkable improvement of subjective sexual functions, facial hair growth, and reduction of breast size. He is currently being followed up in medical out-patient unit.

  Discussion Top

Klinefelter's syndrome is a common genetic form of primary infertility; however, it is rarely diagnosed in our environment because of absent cytogenetic studies. A high index of suspicion is thus required to make clinical diagnosis; more so that the patients may remain asymptomatic until they attain puberty.

The index patient presented with the typical eunuchoidal build, associated with testicular atrophy, gynaecomastia, hypergonadotrophichypogonadism and typical hyalinization of the seminiferous tubules, and clumping of Leydig's cells that is described in this condition. However,cytogenetics analysis was not done to confirm it due to the unavailability of the test in our environment.

It was observed from the literature that a wide range of phenotypic features were ascertained to KS. Polani et al., [5]

reported that KS male primarily expressed small testes, azoospermia, severe intellectual sub-normality, very small penis, and tiny testes. However in the index case there was no intellectual sub-normality. Other clinical features reported previously but absent in the index case include speech and language deficits, learning disabilities, psychosocial difficulties, and behavioral issues. [6] The clinical feature of patients seeking medical attention varies according to the age. [2] Before puberty, only discrete physical anomalies may be noticed such as slightly lower than normal testicular volume. In adolescence and after puberty, KS is characterized by varying symptoms of androgen deficiency and infertility. [2] The risk of breast cancer is 20 times higher in patients with Klinefelter's syndrome. [7] Patient's with this syndrome account for 4% of breast-cancer cases in men. [7]

The histologic findings were similar to those found by other researchers. [8],[9] Histology of the testes generally reveals hyalinizing fibrosis of the seminiferous tubules, absence of spermatogenesis, and relative hyperplasia of the Leydig cells. [8] However, the presence of tubules with residual foci of spermatogenesis has also been reported, with meiotic arrest at primary spermatocyte or spermatid stages and foci of normal spermatogenesis. [10]

The index case presented with hypergonadotro­phichypogonadism which has been reported by other researchers. [7] Pinyerd [11] reported in a review, that 95% of KS expressed elevated gonadotropin levels, infertility and 75% decreased testosterone level.

Many patients with Klinefelter's syndrome remain undiagnosed. Abramsky et al[12] calculated that 10% of expected cases were identified prenatally and 26% were diagnosed in childhood or adult life because of hypogonadism, gynaecomastia, or infertility, leaving 64% undiagnosed.

Spermatogenesis is present at a very low rate in patients with Klinefelter's syndrome, and very rare cases of spontaneous paternity have been reported. [10] Before the introduction of the intracytoplasmic sperm injection (ICSI) technique, the fertility outlook for the vast majority of these patients was hopeless. [13] However, ICSI offers the opportunity for reproduction even when spermatozoa are not present in the ejaculate, but only in the testis. [13] ICSI is now successful in patients with Klinefelter's syndrome, and pregnancies and live births have been reported. [13],[14],[15]

  Conclusion Top

Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation, insufficient professional awareness of the syndrome itself, and lack of cytogenetics analysis in our environment.Klinefelter's syndrome is by no means absent in our environment, and making cytogenetics studies available in Nigeria will improve case identification of Klinefelter's syndrome. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences.

  References Top

1.Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle stimulating hormone.J Clin Endocrinol 1942;2:615-27.  Back to cited text no. 1
2.Lanfranco F, Kamischke A, Zitzmann M. Klinefelter syndrome. Lancet 2004;364:273-83.  Back to cited text no. 2
3.Bojesen A, Juul S, Garvholt CH. Prenatal and postnatal prevalence of Klinefelter syndromes:A national registry study. J Clin Endocrine Metab 2003;88:622-6.   Back to cited text no. 3
4.Kamischke A, Baumgardt A, Horst J, Nieschlag E.Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003;24:41-8.   Back to cited text no. 4
5.Polani PE. Sex chromosomal aberrations in relation to neuropsychiatry. Proc Royal Soc Med 1961;54:672-4.  Back to cited text no. 5
6.Visootsak DJ, Graham JM. Klinefelter syndrome and its variants. Orphanet Encyclopedia 2003;9:309-17.   Back to cited text no. 6
7.Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med 1998;158:1309-14.   Back to cited text no. 7
8.Lue Y, Rao PN, SinhaHikim AP, Im M, Salameh WA, Yen PH, et al. XXY male mice:An experimental model for Klinefelter syndrome. Endocrinology 2001;142:1461-70.   Back to cited text no. 8
9.Gordon DL, Krmpotic E, Thomas W, Gandy HM, Paulsen CA.Pathological testicular findings in Klinefelter's syndrome. Arch Intern Med 1972;130:726-9.   Back to cited text no. 9
10.Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter's syndrome:A case report. Arch Androl 1982;8:149-51.  Back to cited text no. 10
11.Pinyerd B, Zipf WB. Klinefelter Syndrome:Clinical evaluation and intervention. Pediatric Endocrinology Society. Monograph. 2002.  Back to cited text no. 11
12.Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997;17:363-8.  Back to cited text no. 12
13.Ron-ER, Raziel A, Strassburger D, Schachter M, Bern O, Friedler S. Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with nonmosaic Klinefelter syndrome. Fertil Steril 2000;74:832-33.   Back to cited text no. 13
14.Ron-ER, Strassburger D, Gelman-Kohan S, Friedler S, Raziel A, Appelman Z. A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome. Hum Reprod 2000;15:1804-6.   Back to cited text no. 14
15.Rosenlund B, Hreinsson JG, Hovatta O. Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with nonmosaicKlinefelter's syndrome. J Assist Reprod Genet 2002;19:149-51.  Back to cited text no. 15


  [Figure 1], [Figure 2]

This article has been cited by
1 The combination of acromegaly and Klinefelter syndrome in one patient
Ivana Ságová,Dušan Pávai,Daniela Kantárová,Anton Vanuga,Jurina Sadlonová,Peter Vanuga,Milan Dragula
Vnitrní lékarství. 2019; 65(1): 51
[Pubmed] | [DOI]
2 Combination of Klinefelter Syndrome and Acromegaly
Hongjuan Fang,Jian Xu,Huanwen Wu,Hong Fan,Liyong Zhong
Medicine. 2016; 95(17): e3444
[Pubmed] | [DOI]


Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  In this article
  Case Report
   Article Figures

 Article Access Statistics
    PDF Downloaded387    
    Comments [Add]    
    Cited by others 2    

Recommend this journal