[Association between karyotype 47XYY and 5-alpha reductase deficiency revealed by micropenis: about a case and literature review].

Abstract

Subjects with 47XYY often have normal amounts of gonadotropin-releasing hormone. In these subjects the association between 47XYY and 5-alpha reductase deficiency is rare. The common clinical manifestation of 5-alpha reductase deficiency is male pseudohermaphrodism, rarely it has been revealed by micropenis. Testosterone enanthate does not give good results in patients with 5-alpha reductase deficiency; dihydrotestosterone (DHT) has proven effectiveness in these cases. We report the case of a 17-year old patient, referred to our Hospital with micropenis. The patient didn't respond to two enanthate testosterone therapies. Assessment showed normal testosterone levels, amounts of gonadotropin-releasing hormone at the upper limit of normal, low DHT, elevated testosterone/DHT ratio>20, karyotype 47 XYY. This study highlights that 5-alpha reductase deficiency in these subjects raises the issue of simple coincidence or effective link.

• Authors: Nestor Ghislain Andzouana Mbamognoua, Fatima Aziouaz, Suzanne Matali, Hanane El Ouahabi, Farida Ajdi
• Journal: The Pan African medical journal (Pan Afr Med J) Vol. 36 Pg. 48 ( 2020) ISSN: 1937-8688 [Electronic] Uganda
• Vernacular Title: Association caryotype 47XYY et déficit en 5 alpha réductase révélée par un micropénis: à propos d’un cas et revue de la littérature.
• PMID: 32774624 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © Nestor Ghislain Andzouana Mbamognoua et al.

Chemical References

• Gonadotropin-Releasing Hormone
• Testosterone
• 3-Oxo-5-alpha-Steroid 4-Dehydrogenase

Topics

• 3-Oxo-5-alpha-Steroid 4-Dehydrogenase (deficiency)
• Adolescent
• Disorder of Sex Development, 46,XY (diagnosis)
• Genital Diseases, Male (etiology, genetics)
• Gonadotropin-Releasing Hormone (blood)
• Humans
• Hypospadias (diagnosis)
• Male
• Penis (abnormalities)
• Sex Chromosome Disorders (diagnosis)
• Steroid Metabolism, Inborn Errors (diagnosis)
• Testosterone (blood)
• XYY Karyotype (diagnosis)