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2.
Cureus ; 14(8): e28365, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36168345

RESUMO

Translocation of sex/autosome chromosomes is uncommon, but they have a stronger impact on fertility than autosome/autosome translocation. Y/autosome translocation is associated with azoospermia in 80% of cases. To our knowledge, there have been only eight cases reported of a balanced reciprocal (Y;16) translocation associated with male infertility.Here we report an infertile man with azoospermia who has a reciprocal translocation t(Y;16) (q12; p13.2).  A 38-year-old Saudi medically free male presented with primary infertility and azoospermia for six years. He has a positive family history of male infertility. Physical examination was unremarkable. Investigations showed normal hormonal panel and azoospermia. He has a male karyotype with a reciprocal chromosome Y,16 translocation. Histopathology report of bilateral testicular sperm extraction (TESE) revealed most tubules show early maturation arrest and few show either Sertoli-cell only syndrome or are completely hyalinized and atrophic.  This case illustrates a rare cause of non-obstructive azoospermia in a male with chromosome Y,16 translocation as a result of a meiotic arrest. Medical practitioners should be aware of the genetic abnormalities of male patients who present with primary infertility. Karyotyping has the capability to diagnose genetic abnormalities in this patient.

4.
Cureus ; 13(12): e20341, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35036184

RESUMO

The abdominal cocoon is a rare clinical entity characterized by a thick fibrocollagenous membrane encasing the intestinal loops. Despite its rarity, the abdominal cocoon is one of the most serious complications of peritoneal dialysis. We report the case of a 45-year-old man, with end-stage renal disease on peritoneal dialysis resulting from systemic lupus erythematosus, who presented to the emergency department with progressive abdominal pain for the last two weeks. The pain was associated with nausea, vomiting, abdominal distension, and decreased bowel motion. Upon examination, the vital signs were within the normal limits. Abdominal examination revealed a distended abdomen with generalized tenderness. There was evidence of ascites as indicated by the positive shifting dullness test. The bowel sounds were of increased frequency and intensity. The laboratory findings were non-contributory. The patient underwent an abdominal computed tomography scan that demonstrated a cluster of small intestinal loops in the middle of the abdomen with a surrounding thick and calcified membrane. This made the diagnosis of the abdominal cocoon. The patient underwent an operation to resect the fibrocollagenous membrane. The patient reported improvement after the operation. No recurrence was noted after three months of follow-up. Abdominal cocoon is a very rare complication of peritoneal dialysis. The diagnosis of abdominal cocoon should be kept in mind when the physician encounters a patient with peritoneal dialysis who presented with non-specific and unexplained gastrointestinal symptoms.

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