[Clinical and molecular genetic features of 17alpha-hydroxylase deficiency: study of a case].
OBJECTIVE
To study the clinical and molecular genetic features of 17alpha-hydroxylase deficiency and treatment of femoral neck fracture complicated therein.


METHODS
A patient with 17alpha-hydroxylase deficiency with femoral neck fracture, with social sex as female, aged 19, underwent thorough clinical assessment, including history collection, physical examination, and laboratory test. Hormonal replacement therapy was applied and closed replacement was performed on the fractured femoral neck. Molecular genetic method was adopted to explore the gene mutation.


RESULTS
The patient was diagnosed as 17alpha-hydroxylase deficiency according to clinical assessment. Under spinal anesthesia, the displaced femoral neck was reduced closely and fixed using 3 cannulated screws. Ten-month follow-up showed that the function of the injured hip was recovered. Genetic examination showed homozygous mutation in the exon 6: 6436 - 6438 (TAC-->AA), causing amino acid missense mutation Y329K and 418X.


CONCLUSIONS
Femoral neck fracture in 17alpha-hydroxylase deficiency patient can be treated successfully by operative method. 6436 - 6438 (TAC-->AA) mutation in CYP17A1 gene may be a prevalent mutation causing 17alpha-hydroxylase deficiency in China.
Yang
Ming-Hui
MH
Department of Traumatology and Orthopaedics, Fourth Medical College of Peking University, Beijing Jishuitan Hospital, Beijing 100035, China.
Wu
Xin-Bao
XB
Li
Ting
T
Wang
Man-Yi
MY
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005265:Femoral Neck Fractures / Q000209:etiology; D006801:Humans; D008297:Male; D008967:Molecular Biology; D020125:Mutation, Missense; D010375:Pedigree; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism
D013254:Steroid 17-alpha-Hydroxylase