P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.
OBJECTIVE
To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation.


METHODS
We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient.


RESULTS
An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche. Blood pressure was 155/90 mm Hg, she had no axillary or pubic hair, breasts were Tanner stage 1, and female genitalia were Tanner stage 1. Further laboratory studies showed hypokalemia with metabolic alkalosis, hypergonadotropic hypogonadism, a 46, XY karyotype, a low 17-hydroxyprogesterone level, and a high deoxycorticosterone level. Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCA→TAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X). Imaging studies showed large adrenal glands, cystic picture in the inguinal canal (suggestive of intra-abdominal testes), and absent Müllerian structures. Exploratory laparotomy was performed to remove the remaining gonads, and the final histologic examination showed atrophic testes.


CONCLUSIONS
Congenital adrenal hyperplasia due to CYP17 deficiency should be suspected in patients with hypertension, hypokalemic alkalosis, and hypogonadism. In such cases, it is mandatory to assess the karyotype and perform hormonal and molecular genetic studies.
Pérez
Edgar G Durán
EG
Department of Endocrinology, National Autonomous of Mexico, Mexico City, Mexico. edurandr@gmail.com
del Rincón
Lourdes González
LG
Loza
Oscar T Moreno
OT
de Saro
Monica D Martín
MD
Palomo
Antonio Segovia
AS
Pedraza
Valentín Sánchez
VS
Alfaro
Susana Kofman
SK
García
Gloria E Queipo
GE
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D011859:Radiography; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase