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Endocrine Abstracts (2017) 49 EP1090 | DOI: 10.1530/endoabs.49.EP1090

1Department of Diabetology, Endocriniology, Clinical Nutrition and Metabolism, University Hospital of Bern, Bern, Switzerland; 2Department of Pediatrics, Divsion of Pediatric Endocrinology and Diabetology, University Hospital of Bern, Bern, Switzerland; 3Pediatric Endocrinology Research Unit Vall d’Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Barcelona, Spain.


The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male internal urogenital tract. We describe the case of an adult patient having migrated from Pakistan to Switzerland in whom a steroid 5-alpha-reductase 2 deficiency was diagnosed at the age of 29. Molecular genetic analysis identified a homozygous point mutation in exon 4 of the 5-alpha-reductase 2 gene, leading to an amino acid change from glutamic acid to lysine. To our knowledge, this is the second case of this mutation in the steroid 5-alpha-reductase 2 gene (SRD5A2) which was first described in 1997 (Anwar et al.).

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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