AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia

Abstract: Simple virilizing congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by 21 hydroxylase deficiency leading to excessive androgen production. In infants with 46,XX karyotype, prenatal exposure of androgen overproduction leads to a gradual virilization of the external genital. Consequently, babies are born with an ambiguous genital which complicates sex assignment. Genital virilization will be progressive if these babies remain untreated. In country where newborn screening is available, patients with CAH are identified soon after birth and receive medication afterward, unlike in Indonesia. Many parents and patients with CAH did not seek healthcare professionals due to lack of information about inheritance and clinical manifestation of CAH. In Indonesia, newborn screening has not been applied yet; management and therapy for CAH are only available in some big cities but glucocorticoid medications need to be imported. Diagnosis was established using karyotype, hormonal and gene mutation analysis. In this study, we reported 30 patients with different physical appearance i.e., big phallus, one or two ending perineum, very severe chordae, labioscrotal fusion, complete labial fusion with scrotalization, masculization, no breast development, severe hyperpigmentation, appears Adam’s apple and short stature. Sex assignment is still a dilemma; some of the children were raised as males, females, or left undefined. The complex management of children and adults with CAH highlights the importance of raising awareness among medical personnels to promote early detection and treatment for CAH patients. Genetic counseling is essential for these families.

Keywords: Congenital adrenal hyperplasia (CAH); untreated; Indonesia