ESPE Abstracts

Background: A specialized endo-genetic service was established in our clinic in January 2018. The service is multi-disciplinary and includes not only endocrinologists but also other physicians from different fields (e.g urology, orthopedics, imaging), nursing staff, psychologists, social workers, dieticians, genetic laboratories and bioinformaticians. The service is now run by a board-certified physician in both pediatric endocrinology and medical genetics.

Object: Genetic consultation and testing of patients and families with different endocrine disorders and a high suspicion of monogenic etiology.

Methods: Most patients are referred to by their endocrinologists and more rarely by other specialists. The first step of evaluation includes a thorough anamnesis, family history, meticulous physical examination, and an explanation to the family about possible genetic etiologies and the options for genetic testing. The second step is genetic work-up which can include different genetic tests, according to the specific phenotype. The third step is analyzing the results and the fourth step is explaining the results to the family, including the possible effect on treatment and follow-up, the need to test other family members, recurrence risk and further family planning. The final step includes long term follow-up and care.

Results: Over 200 genetic pediatric consultations were performed until today. Out of all cases, a genetic diagnosis was made in 33% of all cases, but 32% of patients did not complete the genetic testing that was recommended. Out of the patients who did complete the work-up, a genetic diagnosis was made in 50%. Variants of uncertain significance were found in 6%. The most common reason for referral was short stature (34% of consultations), in which a genetic diagnosis was made in 35% of patients who completed the work-up. The second most common referral was monogenic diabetes (14%) with a monogenic etiology established in 60% of patients. The third was calcium and bone metabolism abnormalities (10% of patients), with a similar high yield of 60% positive diagnoses. Other reasons for referral included differences in sex development (7.5% of patients), recurrent hypoglycemia (7%), obesity (6.5%), adrenal disorders (4.5%) and more rare cases of hypogonadotropic hypogonadism, multiple pituitary hormone deficiency, premature ovarian failure etc.

Conclusions: The experience and knowledge of an endo-genetic specialized service yields a high rate of positive genetic diagnoses. In many cases, the diagnosis influences endocrine recommendations, treatment, follow-up, and prenatal consultation. The multi-disciplinary team enables a holistic approach and a better care frame for the patients and their families.