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CASE REPORT
Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease
  1. Partha Pratim Chakraborty,
  2. Shinjan Patra,
  3. Sugata Narayan Biswas,
  4. Himanshu Barman
  1. Department of Medicine, Midnapore Medical College, Midnapore, West Bengal, India
  1. Correspondence to Dr Partha Pratim Chakraborty, docparthapc{at}yahoo.co.in

Summary

Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome. Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. We encountered a young non-obese individual having insulin-requiring diabetes following secondary oral agent failure with primary male factor infertility secondary to asthenospermia. A suggestive family history, lack of acanthosis, negative pancreatic autoimmunity, hypomagnesaemia, bilateral renal and epididymal cysts, and absence of body and tail of pancreas pointed towards underlying MODY 5.

  • diabetes
  • general practice / family medicine
  • reproductive medicine
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Footnotes

  • Contributors PPC and SP were involved in diagnosis, patient management, literature search and preparation of the manuscript. SNB and HB were involved in evaluation of the patient, diagnosis and management.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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