Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
| Autor: | Regina Matsunaga Martin, Sorahia Domenice, Aline Machado Zamboni, Marlene Inácio, Berenice B. Mendonca, Giselle F. Taboada, Elaine Maria Frade Costa, Fernanda Borchers Coeli-Lacchini, Vinicius Nahime Brito, Alexandre J. F. Carrilho, Livia M. Mermejo, Larissa G. Gomes, Fabrícia Torres Gonçalves, Kenny Yelena Del Toro Camargo, Luciane Carneiro de Carvalho, Virginia Ribeiro Teixeira, Gabriela Paula Finkielstain |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Adult endocrine system medicine.medical_specialty 46 XX Disorders of Sex Development Adolescent 030209 endocrinology & metabolism Gastroenterology 03 medical and health sciences Basal (phylogenetics) Young Adult 0302 clinical medicine Hypergonadotropic hypogonadism Adrenal Cortex Hormones Internal medicine medicine Humans Congenital adrenal hyperplasia Ovarian Diseases Child Dexamethasone Retrospective Studies Gynecology Breast development Adrenal Hyperplasia Congenital business.industry Ovarian torsion Obstetrics and Gynecology Steroid 17-alpha-Hydroxylase medicine.disease Pubic hair Pedigree 030104 developmental biology medicine.anatomical_structure Reproductive Medicine Amenorrhea Female medicine.symptom business medicine.drug |
| Zdroj: | Fertility and sterility. 105(6) |
| ISSN: | 1556-5653 |
| Popis: | Objective To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging. Design Retrospective study. Setting Tertiary care center. Patient(s) Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families. Intervention(s) None. Main Outcome Measure(s) Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management. Result(s) 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. Conclusion(s) 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|