Clinical and Molecular Evaluation of a Case of Male Infertility and Azoospermia
Journal Title: Journal of Case Reports and Studies - Year 2015, Vol 3, Issue 1
Abstract
Here we describe the case of a 35 year old male, with a harmonic phenotype, who sought medical assistance to assess the etiology of his infertility. As a result of clinical examination, karyotyping, FISH and molecular studies, we obtained the following karyotype: mos 45,X[18]/46,XY,idic(Y)q(11.2)[82]. Furthermore, the Y chromosome was characterized by the absence of the regions AZF2 (former AZFb, within the 11.22 band, and AZFc, within the 11.23 band), whereas the region AZF1 was conserved. Male infertility can be caused by several genetic alterations. Y chromosome aberrations are very frequent in infertile males. This case with an azoospermic patient carrying a complex karyotype demonstrated that cytogenetic and molecular profiling can be helpful to establish a diagnosis in cases of subjects with a normal gross phenotype.
Authors and Affiliations
Malatesta P and Perrotti N
Keywords
Related Articles
- EP ID EP582833
- DOI 10.15744/2348-9820.2.402
- Views 105
- Downloads 0
Hirschsprung’s Disease in Adult Treated by Coloprotectomy and Colo-Anal Anastomosis
Hirschsprung’s disease is a rare pathology Most cases become manifest during the neonatal period, but in rare instances, the disease is initially diagnosed in adult patients. We report a case of the 26 years old man who...
Anterior Mediastinal Pseudo-Tumor Tuberculosis: Should We Settle for This Diagnosis?
Mr M.Y., 32 years old, presented since 5 months Dyspnea associated with a productive cough, in a context of night sweats and encrypted weight loss 5 kg in 3 months and who has consulted in a different formation other tha...
Teratoma in the Neonate: An Unusual Cause of Airway Obstruction
Teratoma of the nasopharynx is a very rare lesion with a high mortality rate due to severe airway obstruction, especially in the neonatal period. We report the case of a newborn child who presented with an inspiratory di...
Hereditary Spontaneous Coronary Artery Dissection
Introduction: SCAD with an estimated prevalence of 1.7% to 4% is an important cause of Myocardial infarction especially in middleaged women with no or minimal cardiovascular risk factors. Diagnosis requires a high degree...
Productive Cough and Bilateral Ptosis
We present a case report of a patient with Mounier-Kuhn syndrome. The clinical, radiological and endoscopic illustrations contribute to the awareness and recognizability of this rare and under-diagnosed pulmonary syndrom...