ESPE Abstracts

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).

Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.

Results: 29.8% of the patients were SGA just for weight, 8.8% were just for length, and 61.4% were for both. The rate of consanguineous marriage was 39.3%. 32.5% of patients had at least one parent with height-SDS ≤-2, and 10.4% had both parents with short stature. The frequency of premature births was 20.2%. All patients presented with either a height-SDS of ≤-2 or had a height of more than 2.0 SDS below the midparental-height. Median height-SDS was -3.2. Besides marked short stature, a vast amount of the patients had significant clinical features. The most recurrent features associated with short stature were facial dysmorphism (55.1%) and microcephaly (55.1%). Other additional features included some degree of developmental delay or intellectual disability, skeletal abnormalities/disproportionate stature, heart or renal abnormality, cryptorchidism, and hearing loss. Among 41 patients (17F/41M) who reached pubertal onset, the median age at pubertal onset was 10.1 years in girls and 11.5 years in boys. The median height at pubertal onset was 125 cm in girls and 129 cm in boys. Precocious puberty and early puberty were found to be 6.7% and 14.6%, respectively. Four (5.6%) patients had delayed puberty. Two fraternal twin girls had primary gonadal insufficiency (PGI), two boys developed PGI secondary to bilateral cryptorchidism. All four patients had a normal karyotype. Sixty-four children were started on recombinant growth hormone (GH) treatment, and the majority (76.5%) of them were diagnosed with GH-deficiency. The median GH dose was 35 µg/kg/day, and duration of therapy was 3.6 years. Height-SDS increased significantly over the first and second years of treatment in the GH-deficient group. GH response in GH-deficient group was significantly greater than the non-GH deficient group in the first two years of treatment. Median adult-height gain SDS was 0,4 in GH-deficient patients, and it was -0,6 in the non-GH deficient group.

Conclusion: Short-statured patients born SGA should be examined in terms of accompanying features. Although the response to GH treatment is a better GH-deficient group, final adult-height may remain below the general population. Further studies are needed to elucidate the etiology in SGA with PSS.