Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency

Asian J Androl. 2017 May-Jun;19(3):386-387. doi: 10.4103/1008-682X.170865.

Authors

Wen Ji¹, Lu-Yao Zhang¹, Fu-Cheng Li², Yu Wang¹, Wei He¹, Qi-Qi Yin¹, Zhi-Hong Liao¹

Affiliations

¹ Department of Endocrinology, 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
² Department of Medical Genetics, Genome Research Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510080, China.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency*
3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
Adult
Disorder of Sex Development, 46,XY / complications
Disorder of Sex Development, 46,XY / diagnostic imaging
Disorder of Sex Development, 46,XY / genetics*
Humans
Hypospadias / complications
Hypospadias / diagnostic imaging
Hypospadias / genetics*
Kallmann Syndrome / complications
Kallmann Syndrome / diagnostic imaging
Kallmann Syndrome / genetics*
Magnetic Resonance Imaging
Male
Steroid Metabolism, Inborn Errors / complications
Steroid Metabolism, Inborn Errors / diagnostic imaging
Steroid Metabolism, Inborn Errors / genetics*
Whole Genome Sequencing

Substances

3-Oxo-5-alpha-Steroid 4-Dehydrogenase

Supplementary concepts

Pseudovaginal Perineoscrotal Hypospadias