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Unusual presentation of more common disease/injury
CASE REPORT
Case of newly diagnosed bilateral anorchia in a 42-year-old male patient
  1. Francisco Sousa Santos1,
  2. Cátia Ferrinho1,
  3. Clotilde Limbert1,
  4. Carlos Vasconcelos1,2
  1. 1Endocrinology, Hospital de Egas Moniz, Lisbon, Portugal
  2. 2Endocrinology, Hospital de Egas Moniz, Lisbon, Portugal
  1. Correspondence to Dr Francisco Sousa Santos, fr.sousa.santos{at}gmail.com

Summary

A 42-year-old African man presented with hypogonadic phenotypical features, including gynoid body distribution, gynaecomastia, absent facial and truncal hair and micropenis. He denied ever experiencing development of male secondary sex characteristics. Endocrine testing revealed hypergonadotropic hypogonadism and undetectable AMH. Human chorionic gonadotropin (hCG) stimulation test failed to increase testosterone levels. Peripheral blood karyotype was 46, XY. Clinical examination and abdominal/pelvic/scrotal ultrasound and MRI failed to identify any testicular structures/remnants. Given the clinical course and the biochemical–radiological presentation, the diagnosis of bilateral anorchia was made (after more than four decades of its probable onset), and surgical exploration was decided against. The patient was subsequently started on monthly intramuscular testosterone experiencing progressive normal virilisation.

  • congenital disorders
  • endocrine system
  • urinary and genital tract disorders

https://doi.org/10.1136/bcr-2018-225530

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    Footnotes

    • Contributors FSS: was responsible for collecting data, bibliographic review and writing the final manuscript (and its revision). CF: performed bibliographic review and reviewed the final manuscript. CL, CAV: were responsible for the revision of the paper and its contents and discussing the clinical approach.

    • 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.