Journal Basic Info

  • Impact Factor: 1.809**
  • H-Index: 6
  • ISSN: 2474-1655
  • DOI: 10.25107/2474-1655
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Cardio-Thoracic Surgery
  •  Sports Medicine
  •  Physical Medicine & Rehabilitation
  •  Gastric Cancer
  •  Oncology Cases
  •  Sleep Medicine and Disorders
  •  Dermatology and Cosmetology
  •  Palliative Care

Abstract

Citation: Ann Clin Case Rep. 2018;3(1):1537.DOI: 10.25107/2474-1655.1537

A Case Report: Non-Obstructive Azoospermia and Normal Phenotype in a Thirty-Eight Year Old Male with a Rare Klinefelter′s Syndrome Genotype

Mia Letterie, Janet L Kennedy and R Dale McClure

Whitman College, USA
Department of Reproductive Medicine, Seattle Reproductive Medicine, USA

*Correspondance to: Janet L Kennedy 

 PDF  Full Text Case Report | Open Access

Abstract:

Background: Klinefelter’s syndrome (KS) is the most common genetic cause of infertility in males. KS is characterized by non-obstructive azoospermia (NOA) most often accompanied by physical signs including small testes, tall stature, and gynecomastia. The most common karyotype is 47, XXY. We describe a patient with a rare supernumerary isochromosome of X and relatively normal phenotype. We provide evidence regarding the approach to treatment of infertility in these patients.Case Summary: We describe an infertile male who presented only with non-obstructive azoospermia and small testes with no other phenotypic manifestations of Klinefelter’s Syndrome. His karyotype, 47, X,i(Xq),Y, includes a rare isochromosome of X. Given the absense of physical evidence of hypogonadism, the patient and his wife held some hope that sperm would be found on testicular biopsy. No sperm were identifiable after bilateral microsurgical testicular sperm extraction (mTESE). Alternative treatment options were suggested and the couple eventually conceived via insemination with donor sperm.Conclusion: Given the rarity of this presentation, this information may provide direction in future treatment by confirming that surgical sperm retrieval remains futile even in KS patients with a supernumerary isochromosome X despite a relatively normal phenotype. Treating directly with therapeutic donor insemination has a far higher pregnancy rate and avoids an unnecessary and expensive treatment attempt.

Keywords:

Klinefelter’s syndrome; Non-obstructive azoospermia; Isochromosome; Microsurgical testicular sperm extraction

Cite the Article:

Letterie M, Kennedy JL, McClure RD. A Case Report: Non-Obstructive Azoospermia and Normal Phenotype in a Thirty-Eight Year Old Male with a Rare Klinefelter′s Syndrome Genotype. Ann Clin Case Rep. 2018; 3: 1537.

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