Simple classical virilizing form grade-IV congenital adrenal hyperplasia: case report
Keywords:
ADRENAL HYPERPLASIA, CONGENITAL, PHENYLKETONURIA, MATERNAL, NEONATAL SCREENING.Abstract
Introduction: congenital adrenal hyperplasia is the most frequent cause of alterations in sexual differentiation.
Case report: the clinical case of a full-term newborn, good-weight, with no pathological perinatal history is presented. He was born in good condition and by clinical method an early diagnosis of anomalies in the development of genitalia (ambiguous) was made, requiring multidisciplinary consultation with genetics, endocrinology, neonatology, urology, gynecology, psychology and surgery, with prior informed consent of the family. During the evolution he presented: flavinic jaundice of skin and mucous membranes at 72 hours, in relation to physiological jaundice, levels of 17-hydroxyprogesterone serum in 200ng/ml (elevated) and a physiological weight loss of 10%, maximum limit of normality, according to maturity. The Neonatal Screening Program corroborated the diagnosis of HSC 21-hydroxylase, in the simple classical virilizing form IV-grade, with associated hyponatremia and hyperkalemia in hemochemical studies. In special neonatal care he required stabilization, correction of electrolyte disorders and treatment with Fludrocortisone and cortisone acetate. He evolved stable. He was discharged with follow-up by Endocrinology and Genetics consultations. Currently awaiting corrective surgery, the couple involved required studies, genetic counseling for the prevention of future births and was followed-up in a medical multidisciplinary consultation.
Conclusions: immediate medical assistance and timely diagnosis of congenital adrenal hyperplasia, simple classical virilizing form grade- IV, debuting in the neonatal period, allowed anticipating severe acute saline loss, reducing the biopsychosocial impact and improving infant survival.
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