DIFFERENTIAL DIAGNOSIS OF DISORDERS OF SEX DEVELOPMENT IN CHILDREN ON THE EXAMPLE OF CLINICAL CASES

Abstract

Introduction. Disorders of sex development (DSD) can be defined as a heterogeneous group of congenital diseases caused by a mismatch between genetic, gonadal and phenotypic sex. The prevalence of this pathology, taking into account the Сongenital Adrenal Hyperplasia (CAN), is 1 case per 4000-5000 newborns. Sexual differentiation of the fetus includes the processes of formation, differentiation of gonads, transformation of internal and external genitalia. The main cause of DSD with 46 XX karyotype is excessive androgenization of the fetus due to the presence of the SRY gene in the body or increased production of androgens by the adrenal cortex. CAH is a group of autosomal recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the cortisol synthesis in the adrenal cortex. The diagnosis of DSD can be verified by neonatal screening data, a carefully collected anamnesis, an assessment of clinical, laboratory and instrumental data, the results of cytogenetic, hormonal and molecular genetic studies.

Case description. First clinical case  describes a child with variant of 21–hydroxylase deficiency CAN. The importance of neonatal screening of Adrenogenital syndrome  (17-OH-progesterone ) for early diagnosis and prescription of  hormone  therapy has been demonstrated. Second clinical case  describes a case of 46 XX ovotesticular disorder of sex development.  The stages of diagnosis and the difficulties that may arise in verifying the diagnosis for newborns with identified abnormal structure of the external genitalia are outlined.

Conclusion. Comprehensive examination and a multidisciplinary approach make it possible to verify the diagnosis for various forms of neurofibromatosis type 1, which influences further treatment strategy, follow-up, and social adaptation of the child, and reduces the risk of malignant neoplasms.