Complex clinico-endocrinological characterization of the idiopathic variant of congenital disorder of sex development in a child with male karyotype 46,XY

Background. Congenital disorders of sex development (DSD) represent a heterogeneous group of dysontogenetic conditions characterized by a discordance between chromosomal, gonadal, and phenotypic sex. Among them, idiopathic forms of male pseudohermaphroditism with a 46,XY karyotype are among the most diagnostically challenging variants, as the presence of testicular tissue is accompanied by incomplete masculinization of the external genitalia in the absence of detectable mutations within the androgen-regulatory gene system. Given the clinico-endocrinological ambiguity of this pathology, an integrative diagnostic strategy combining hormonal, cytogenetic, and morphofunctional assessments, along with the timely determination of optimal timing for surgical and hormonal correction, acquires particular clinical importance. Objective. To perform a detailed clinico-endocrinological characterization of the idiopathic variant of DSD in a prepubertal child with a 46,XY karyotype and to determine the principles of rational diagnostic and therapeutic management. Materials and methods. The study is based on the clinical observation of a 9-year-old boy examined in the Endocrinology Department of the Kursk Regional Children’s Clinical Hospital. The analysis included medical history, physical status, serum levels of LH, FSH, testosterone, and anti-Müllerian hormone, cytogenetic data, and ultrasonographic features of the gonads and pelvic organs, correlated with up-to-date literature sources. Conclusions. Idiopathic forms of male pseudohermaphroditism with a normal male karyotype require a multidisciplinary approach and prolonged follow-up. Early surgical correction and subsequent hormonal monitoring contribute to the formation of an adequate phenotypic outcome, reduction of endocrine complications, and improvement of psychosocial adaptation during puberty.