L. Markin, O. Medvyedyeva

Danylo Halytsky Lviv National Medical University

Introduction. The syndrome of Aarskog – Scott is a disease inherited from an auto-dominant or X-linked recessive type characterized by facial features, genitourinary anomalies, and disproportionately low growth.

Aim. To make an overview of current literature on etiology, pathogenesis, clinical signs, diagnostic principles and treatment of Aarskog – Scott syndrome.

Materials and methods. An overview of modern literature on etiology, pathogenesis, clinical signs, principles of diagnosis and treatment of the syndrome of Aarsko-Scott is conducted. A description of the clinical case of this syndrome is presented. A syndromal analysis of the prenatal and postnatal symptoms with formulation a genetic diagnosis has been carried.

Results. The main pathogenic link of the onset of the syndrome is an X-coupled recessive type of inheritance. The gen of  the Aarskog – Scott syndrome is denoted by FGDY 1 and is localized on the chromosome Xq11.21. The FGDY encodes the Rho / Rac nucleotide exchange factor (the class of proteins included in the cytoskeleton of the cell that regulates its growth, if their function is damaged, the mechanism of the emergence of growth anomalies characteristic of the syndrome of aarsco Aarskog – Scott syndrome is realized. The diagnose is given immediately after the birth or during an early childhood. Prenatal Aarskog – Scott syndrome can be diagnosed using an ultrasound examination, revealing the length of the body for a certain period of gestation.

Aarskog – Scott syndrome is differentiated from:

1. Noonan syndrome and LEOPARD syndrome, in which trunk shortening, hypertrophy, upper anterior ptosis and hypogonadism are also observed.

2. Robinow syndrome and pseudohypoparatiroidizm.

3. Face-finger-genital syndrome is an autosomal recessive disorder characterized by trunk shortening, hypertension, a wide short nose and twisted nostrils, an anomaly of the anus, short hands, chalet-shaped wickets, however, there is no antimonogoloid eye segment, ptosis. The hair is dry, cut and hypipotized.

Specific treatment of the disease does not exist, therefore symptomatic and supportive treatment is used. Typically the slow maturation and prolonged puberty period is present.Tthe reproductive function does not suffer. Often, orthodontic correction, surgical intervention, genetic counseling, and the assistance of other specialists are required. In patients with normal intelligence, hyperactivity regresses, as a rule, in 12-14 years. Social adaptation for such persons is complete.

Conclusions. The syndrome of Aarskog – Scott can be diagnosed even at the stage of the intrauterine period, but there is no specific treatment for the disease, so the program of the social adaptation for such patients is needed.

Reference

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