ESPE Abstracts (2016) 86 P-P2-952

Congenital Malformations, Dysmorphic Syndromes and Neurodevelopmental Problems in Children with Congenital Hypothyroidism

Marianthi Gkinia, Anna Gikab, Alexandra Iliadia,b, Dimitris Platisb, Vasiliki Gioglib, Kasandra Tataropouloua, Giorgos Paltogloua, Christina Kogiaa, Apostolos Karagiannisa, George Chrousosa, Panagiotis Girginoudisb, Christina Kanaka-Gantenbeina & Antonis Voutetakisa


aFirst Department of Pediatrics, University of Athens, School of Medicine, “Aghia Sophia” Children’s Hospital, Athens, Greece; bDepartment of Biochemical Laboratories, Institute of Child Health, Athens, Greece


Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering the underlying genetic defects of CH.

Objective and hypotheses: To record malformations, dysmorphic syndromes and neurodevelopmental problems in children with CH diagnosed through the Greek neonatal screening program.

Method: The medical records of CH patients were retrospectively analyzed. Pertinent data (e.g, ultrasonographic data on heart or kidney) were not available in each patient.

Results: Data of 435 patients were analyzed (54.7% boys and 45.3% girls). Of these patients, 11.5% were born after in vitro fertilization and 25% were premature (<37 weeks). Thyroid dysgenesis was present in 17% of patients. Umbilical hernia was present in 12.2%, prolonged jaundice in 43%, cryptorchidism or retractile testes in 17.2% of boys. 13.8% of patients demonstrated a delay in speech or/and in motor development and speech therapy was necessary in 9.5%. A total of 9 patients were diagnosed with mental retardation; of these 7 have Down syndrome. In addition, autism was diagnosed in 2 patients. Severe hearing problems were documented in 4 patients. Of patients with pertinent ultrasonographic data, 5% had unilateral renal agenesis (n=5) and 11.5% had severe heart defects (n=9). Dextrocardia with situs inversus was found in one patient with thyroid gland size in the low normal limits. Interestingly, his brother has thyroid dysgenesis.

Conclusion: Our data confirm that thorough physical examination, follow up and a structured diagnostic workup is necessary in children with CH.