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  IN THIS Article
 ::  Abstract
 ::  Introduction
 ::  Case reports
 ::  Discussion
 ::  Acknowledgment
 ::  References

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Year : 1991  |  Volume : 37  |  Issue : 3  |  Page : 171-2

Klinefelter's syndrome with unelevated serum gonadotropin levels (a case report).

Department of Endocrinology, K. E. M. Hospital, Parel, Bombay, Maharashtra.

Correspondence Address:
Department of Endocrinology, K. E. M. Hospital, Parel, Bombay, Maharashtra.

  ::  Abstract

Two cases of Klinefelter's syndrome with 47 XXY karyotype associated with unelevated follicular stimulating hormone (FSH) and luteinizing hormone (LH) levels are reported. The literature is briefly reviewed.

How to cite this article:
Advani S K, Chadha M D, Khan N M. Klinefelter's syndrome with unelevated serum gonadotropin levels (a case report). J Postgrad Med 1991;37:171

How to cite this URL:
Advani S K, Chadha M D, Khan N M. Klinefelter's syndrome with unelevated serum gonadotropin levels (a case report). J Postgrad Med [serial online] 1991 [cited 2023 Jan 31];37:171. Available from:

  ::   Introduction Top

Chromatin positive Klinefelter's syndrome is characterized by a cell line that contains one or more supernummary X chromosomes in addition to the normal male complement of XY. The additional X chromosome impairs the normal testicular function, leading to hyper secretion of the pituitary gonadotropins. Serum follicular stimulating hormone (FSH) is consistently elevated and serum leutinizing hormone (LH) is usually so. We describe below two patients of Klinefelter's syndrome with unelevated levels of FSH and LH.

  ::   Case reports Top

Case 1: A 28-year-old male with clinical features of hypogonadism and a karyotype 47 XXY was referred to us for hormonal replacement therapy. He had not developed pubic, axillary or facial hair. He used to get erections but never had an ejaculation. He weighed 59 kgs, was 182 cm tall, (U/L: 79/103 cm) and had a span of 186 cm. The testes were soft; the right was 4 ml and the left was 3 ml. The stretched penile length was 6 cm. Prior to start in, hormonal therapy, serum hormonal levels were estimated. FSH was 5 mIU/ml (2nd IRP- 78/549), LH was 2.1 mIU/nil (1st IRP-68/40) and testosterone was 1.4 mg/ml X-ray skull was normal.
Case 2: A 25-year-old male diagnosed to have hypogonadotrophic hypogonadism and receiving testosterone for 5 years, attended our clinic after his marriage, to seek additional therapy to achieve fertility. His hormonal levels, one month after the last injection of testosterone, were as follows: FSH 2 mIU/ml (2nd IRP78/549), LH was 3 m/U/ml (Ist IRP-68/40) and testosterone 2 mg/ml. X-ray skull was normal and he had no anosmia. A karyotype done prior to starting human chronic gonadotropin therapy was 47 XXY.
In neither case was it possible to do either a CT scan of the pituitary or the LHRH test, for financial reasons.

  ::   Discussion Top

In the literature, the association of unelevated serum gonadotropin levels (suggesting hypothalamic/pituitary unresponsiveness/failure) with Klinefelter's syndrome (as defined by a karyotype comprising of an excess of X chromosomes) is rare. We have come across six published case reports describing a total of six cases1-6. This prompted us to report our two cases.
In the case described by Rabinowitz et al4, X-ray skull was normal and FSH and LH failed to rise after administration of LHRH. They suggested that this was due to exhaustion of the gonadotrophs as a result of prolonged hyper secretion. However, as they themselves point out, such exhaustion is never seen in post-menopausal women. Carter et a12 found that the brain scan of the patient was normal and so was the response to LHRH. In 1, the cases described by Vague et a16 and by Berthezene et al1, the patients had complete hypopituitarism. CT scans of the brain and 2, pituitary were found to be normal by Hazard et al3 and so was the response to LHRH given repeatedly by infusion pump for three weeks.
Thus, there appears to be heterogeneity even in this small subset of combination viz. Klinefelter's syndrome and unelevated gonadotropins. It is therefore suggested that (a) all patients with hypogonadotraphic hypogonadism should have a karyotype done on them before starting therapy with hCG and (b) patients with 47 XXY karyotype who have unelevated scrum gonadotropin levels should, whenever possible, undergo detailed imaging studies of the pituitary-hypothalamic complex.

  ::   Acknowledgment Top

We thank the Dean, Seth GS Medical College and King Edward Memorial Hospital, Parel, Mumbai for permitting us to publish this case report.

  ::   References Top

1. Berthezene F, Pousset G, Rollet J, Dargy P, Riou PLL. Insuffisances thyreotropes dans le syndrome de Minefelter, as quoted by Hazard, et al3. Ann Endocrinol 1974; 35:583-584.  Back to cited text no. 1    
2.Carter JN, Wiseman DGH, Lee HB. Klinefelter's syndrome with hypogonadotrophic hypogonadism, Brit Med J 1977; 1:212.  Back to cited text no. 2    
3.Hazard J, Rozenberg I, Perlemuter L, Kestenbaum S, Vendrely E, Raoul D, Fiet J, Villete JM, et al. Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotrophic hypogonadisrn associated with gonadal dysgenesis 47 XXY. Acta Ftidocrinologia (Copenh) 1986; 113:593-597.  Back to cited text no. 3    
4.Rabinowitz D, Cohen MM, Rosenniann E, Rosenmann A, Segal S, Bell J, Rosier A, Spitz I, et al. Chromatin -positive Klinefelter's syndrome with undetectable peripheral FSH levels. Amer J Med 1975; 59:594-590.  Back to cited text no. 4    
5.Shirai M, Mat-sudas, li-tsukawa W. A case of hypogonadotrophic hypogonadism with an XY/XXY sex chromosome mosaicism, as quoted by Hazard et al[3]. Tomo-ku J Emp Med 1974; 114:131-139.  Back to cited text no. 5    
6.Vague J, Nicoline J, Monneron A, Bernard PJ. Maladie de Minefelter et hypopituitarisilic, as quoted by Hazard, et al 3. Ann Endocrinol 1963; 24:579-581.   Back to cited text no. 6    

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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
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