Aromatase Deficiency in a Male Patient: Case Report and Literature Review

This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.

This case report describes a 36-year-old Pakistani phenotypic female diagnosed with 46,XY 5-alpha-reductase deficiency, highlighting that such disorders of sexual development can manifest with symptoms like obesity, hirsutism, and amenorrhea later in life due to unique circumstances.

This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.

This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.

This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.