Clinical-laboratory Evaluation and OvaryMorphology by Ultrasound in Patients WhitP450c17 Deficiency

CARVALHO, LUCIANE CARNEIRO; MATSUNAGA, REGINA MARTIN; COSTA, ELAINE MARIA FRADE; DOMENICE, SORAHIA; SILVA, ROSANA BARBOSA; DE CASTRO, MARGARET; MERMEJO, LIVIA; QUEZADO, ROSANA; DE CASTRO MAIA RIBEIRO TEIXEIRA, VIRGÍNIA; GONÇALVES, FABRÍCIA TORRES; CARRILHO, ALEXANDRE JOSÉ FARIA; CAMARGO, KENNY YELENA DEL TORO; FINKIELSTAIN, GABRIELA; BERGADÁ, IGNÁCIO; TABOADA, GISELLE FERNANDES; MENDONÇA, BERENICE BILHARINHO

Montevideo

Congreso; XXIII Annual Meeting of the Paediatrics Endocrinology Latinoamerican Society; 2012

XXIII Annual Meeting of the Paediatrics Endocrinology Latinoamerican Society

Congenital adrenal hyperplasia due to P450c17 deficiency is a rare autosomal recessive. Objective: Report the clinical, laboratory, genetic and imaging of ovarian 46, XX patients.Objective: Report the clinical, laboratory, genetic and imaging of ovarian 46, XX patients. Population: We evaluated eighteen patients belonging to 12 families.We evaluated eighteen patients belonging to 12 families. Results: Most patients had amenorrhea primary (83%) and 89% of the patients had blood hypertension at diagnosis. We observed a high incidence of emotional disorders such as depression and anxiety (13/18). All patients showed elevated levels of LH and progesterone, and decreased androgen levels. The ultrasound assessment showed an increase of at least one of the ovaries in 75% of the patients before treatment and ovarian macrocists in 56%, three of them reported previous surgery indicated by twisting or ovarian rupture. Molecular study was performed in 14 out of 18 patients and 13 patients have inactivating mutations in the CYP17 and 1 in POR gene. The most prevalent mutation in CYP17 was p.W406R, followed by p.P428L. The patients were treated with dexamethasone, estrogen and progesterone with ovarian volume reduction. Conclusions: We emphasize the importance of basal progesterone assay to diagnosis and the high prevalence of ovarian macrocists with risk of twisting and psychiatric disorders, in 46,XX patients whit P450c17 deficiency.Most patients had amenorrhea primary (83%) and 89% of the patients had blood hypertension at diagnosis. We observed a high incidence of emotional disorders such as depression and anxiety (13/18). All patients showed elevated levels of LH and progesterone, and decreased androgen levels. The ultrasound assessment showed an increase of at least one of the ovaries in 75% of the patients before treatment and ovarian macrocists in 56%, three of them reported previous surgery indicated by twisting or ovarian rupture. Molecular study was performed in 14 out of 18 patients and 13 patients have inactivating mutations in the CYP17 and 1 in POR gene. The most prevalent mutation in CYP17 was p.W406R, followed by p.P428L. The patients were treated with dexamethasone, estrogen and progesterone with ovarian volume reduction. Conclusions: We emphasize the importance of basal progesterone assay to diagnosis and the high prevalence of ovarian macrocists with risk of twisting and psychiatric disorders, in 46,XX patients whit P450c17 deficiency.Conclusions: We emphasize the importance of basal progesterone assay to diagnosis and the high prevalence of ovarian macrocists with risk of twisting and psychiatric disorders, in 46,XX patients whit P450c17 deficiency.