ESPE Abstracts

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.

Case: A three-month-old baby boy was brought with the complaint of respiratory distress. He was born at 33 weeks and 950 grams due to oligohydramnios, TSH: 16 µIU/ml, fT4: 7.6 ng/l was found at the 28th day, and L-T4 treatment was started in an external center. His parents were third-degree relatives. When his corrected age was one-month, his weight was 2.2 kg (-3.25 SDS), height was 45.7 cm (-3.07 SDS), head circumference was 35 cm (-2.07 SDS) with syndromic facial appearance. His testicles were not palpated, but were observed in the inguinal canal on ultrasonography. ACTH: 766 pg/ml (0-46) and cortisol: 3.36 µg/dL (4.9-16.8) were measured due to hyperpigmentation. Causes of primary adrenal insufficiency were screened and excluded. Adrenal glands were normal on ultrasonography. Hydrocortisone was started. Since plasma sodium was 134 mEq/l (135-143) and urine sodium was 128 mmol/l, fludrocortisone was added in the follow-up. The patient had recurrent lower respiratory and urinary tract infections in the follow-up. Growth hormone (GH) stimulation tests were performed due to decreased growth rate and inadequate responses (4.91/5.3 ng/mL) were obtained. GH treatment was started when he was 5^9/12-years-old, with a bone age of 2-years and a height of 93.5 cm (-4.56 SDS). When he was 8-years-old, GH treatment was discontinued because his family did not want to continue the treatment (height: 106.2 cm, -3.87 SDS). In the nephrology follow-up due to recurrent urinary tract infection, renal calculi was detected at the age of 6.5 years, and a double-J-stent was inserted when he was 8-years-old due to bilateral hydroureteronephrosis. The patient, who was 10-years-old at the last control, weight: 18.2 kg (-3.91 SDS), height: 120 cm (-3.07 SDS), and he was prepubertal. The karyotype was 46,XY and CDKN1C mutation was negative. Since there is no renal calculi in MIRAGE syndrome, it was not planned to examine SAMD9 mutation.

Conclusion: We present the long-term follow-up of our case, whose clinical features are compatible with IMAGE syndrome, in terms of phenotype&genotype relationship, but no mutation was found in the CDKN1C gene, and whose advanced genetic examination continues.