Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

Rossodivita, Aurora Natalia; Colabucci, F

doi:10.1002/ajmg.1320490217

Cited by 14 publications

(11 citation statements)

References 2 publications

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“…In common with patients with Alström’s syndrome, Kleinfelter patients also suffer from hypogonadism with elevated gonadotrophins (usually FSH, and frequently LH). Isolated growth hormone deficiency has previously been reported in association with the Kleinfelter’s syndrome [9] but in the context of this case probably reflects the presence of Alström’s syndrome. Despite mapping the Alström’s gene to chromosome two [7], it has not yet been possible to pinpoint the exact nature and position of the genetic defect in Alstrom’s syndrome.…”

Section: Water Deprivation Test – Nil By Mouth For 12 Hmentioning

confidence: 71%

Alström’s syndrome with Kleinfelter’s karyotype

Evans¹,

Ansari²,

Page³

2000

Journal of Internal Medicine

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Section: Water Deprivation Test – Nil By Mouth For 12 Hmentioning

confidence: 71%

Alström’s syndrome with Kleinfelter’s karyotype

Evans¹,

Ansari²,

Page³

2000

Journal of Internal Medicine

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“…22 There are a few reported cases of KS and short stature secondary to GH deficiency. 23–31 Complementary studies showed partial GH deficiency, but the reason for such an association is not clearly known.…”

Section: Discussionmentioning

confidence: 99%

Combination of Klinefelter Syndrome and Acromegaly

Fang

Wu³

et al. 2016

Medicine

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Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration, low testosterone concentration, and high follicle-stimulating hormone and luteinizing hormone concentration. Brain imaging revealed a 9 × 6 × 7− mm sellar low-density nodule suggestive of a microadenoma. Trans-sphenoidal surgery was undertaken, and immunohistochemistry revealed GH positivity. Two years after surgery, the patient underwent examination for infertility. He presented with diminished pubic hair, and small and firm testes. Hormonal assay revealed hypergonadotrophic hypogonadism on the basis of decreased serum total testosterone (<0.2 ng/mL), and elevated luteinizing hormone (14.71 mIU/mL) and follicle-stimulating hormone (21.8 mIU/mL). A chromosomal karyotype examination showed 47,XXY, confirming the diagnosis of KS. Replacement therapy with oral testosterone undecanoate was begun. Brain imaging showed no delayed enhancement in the saddle region of the pituitary gland, but the concentration of plasma insulin-like growth factor maintained a high level. The patient's GH concentration was not significantly suppressed by the GH glucose suppression test. In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. As the simultaneous occurrence of KS and acromegaly is rare, and the association between them remains unclear, we suggest that complete pituitary hormonal screening and conventional pituitary MRI should be essential for patients with KS to screen for pituitary tumor.

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“…Hasta donde sepamos hay un solo caso reportado de esta asociación (4). Por eso insistimos en la importancia de efectuar estudios de hormona de crecimiento en todos aquellos casos de síndrome de Klinefelter y baja estatura.…”

Section: Discussionunclassified

Síndrome de Klinefelter con deficiencia parcial de hormona de crecimiento.

Tori¹,

B.²

2015

Rev Med Hered

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SUMMARYWe present a case of Klinefelter's syndrome and short stature due to partial growth hormone deficiency. His height was below the third percentile for age and his bone age lagged behind four years. Cases like this are generally due to the presence of a an isochromosome Xq or to an isolated partial or total deficiency of growth hormone, or to partial or panhypopituitarism. We wish de emphasize the rare association between Klinefelter syndrome and growth hormone deficiency. ( Rev Med Hered 1999; 10: ).

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Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

Cited by 14 publications

References 2 publications

Alström’s syndrome with Kleinfelter’s karyotype

Alström’s syndrome with Kleinfelter’s karyotype

Combination of Klinefelter Syndrome and Acromegaly

Síndrome de Klinefelter con deficiencia parcial de hormona de crecimiento.

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