Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age.

Introduction: The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment.

Material and methods: Four boys were analyzed: three patients diagnosed with SNP at the ages of 1) 8 years and 2 months, 2) 13 years and 2 months, 3) 16 years and 6 months, and patient 4) at the age of 6 years and 11 months - born small for gestational age (SGA). They underwent rhGH treatment.

Results: The expected growth improvement was not observed in all boys. Patient 1 was diagnosed with aortic coarctation, and after each attempt to increase the rhGH dose, nocturnal vomiting occurred - epilepsy was diagnosed. Patient 2 had severe foot pain. Patient 3 had delayed puberty - hypogonadotropic hypogonadism was diagnosed. Patient 4 had dysmorphic features. Genetic tests revealed the following: 1) mixed gonadal dysgenesis - modifying treatment; 2) Fabry disease - enzyme treatment and rhGH improved growth; 3) Kallmann syndrome - discontinuing rhGH for testosterone supplementation; 4) KBG syndrome.

Conclusions: 1. The presence of dysmorphic features and symptoms atypical for growth hormone deficiencies could warrant genetic diagnostics before initiating treatment. 2. Lack of significant improvement in growth is an indication for reevaluation of patients who have not completed growth. 3. Genetic studies in this patient group often elucidate the causes of slow growth rate. 4. The case authors have developed a proposal for a multicentre program aimed at establishing indications for genetic diagnosis in children diagnosed with SNP and SGA treated with rhGH.