Clinical hormonal ovarian and genetic aspects of 46 XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

P450c17 deficiency due to inactivating CYP17A1 mutation in 46,XX patients is associated with primary or secondary amenorrhea, absent/sparse pubic hair, hypertension, and high prevalence of ovarian macrocysts with a risk of torsion. In patients with hypergonadotropic hypogonadism, high basal progesterone level is a hallmark for this diagnosis.


Luciane Carneiro de Carvalho, M.D., Vinicius Nahime Brito, M.D., Ph.D., Regina Matsunaga Martin, M.D., Ph.D., Aline Machado Zamboni, Larissa Garcia Gomes, M.D., Ph.D., Marlene Inácio, Ph.D., Livia Mara Mermejo, M.D., Ph.D., Fernanda Coeli-Lacchini, Ph.D., Virginia Ribeiro Teixeira, M.D., Fabrícia Torres Gonçalves, M.D., Alexandre José Faria Carrilho, M.D., Ph.D., Kenny Yelena Del Toro Camargo, M.D., Gabriela Paula Finkielstain, M.D., Ph.D., Giselle Fernandes Taboada, M.D., Elaine Maria Frade Costa, M.D., Ph.D., Sorahia Domenice, M.D. Ph.D., Berenice Bilharinho Mendonca, M.D., Ph.D.

Volume 105, Issue 6, Pages 1612-1619



To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging.


Retrospective study.


Tertiary care center.


Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families.



Main Outcome Measure(s):

Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management.


Seventy-one percent of patients presented with primary amenorrhea, 50% had no breast development, and pubic hair was absent or sparse in all patients; 88% had high blood pressure at diagnosis. Basal LH and P levels were high, and androgen levels were low in all patients. Ultrasound revealed ovarian enlargement in 68.7% and ovarian macrocysts in 62.5% of patients before treatment; three patients had a previous surgical correction of ovarian torsion or rupture. Molecular analysis revealed inactivating CYP17A1 mutations in all patients. The most prevalent mutation was p.W406R, and one patient bore a novel p.G478S/p.I223Nfs*10 compound heterozygous mutation. Treatment with dexamethasone, estrogen, and P resulted in reduction of ovarian volume.


Amenorrhea, absent/sparse pubic hair, hypertension, and ovarian macrocysts, whichincrease the risk of ovarian torsion, are important elements in the diagnosis of 46,XX patients with CYP17A1 defects. High basal P levels in patients with hypergonadotropic hypogonadism point to the diagnosis of CYP17A1 defects. Fertility can be achieved in these patients with novel reproductive techniques.

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