ESPE Abstracts (2023) 97 P1-182

1Etlik City Hospital - Department of Pediatrics, Ankara, Turkey. 2Etlik City Hospital - Department of Pediatric Endocrinology, Ankara, Turkey. 3Dr. Sami Ulus Children’s Hospital, Department of Genetics, Ankara, Turkey. 4University of Health Sciences, Ankara, Turkey

DNA ligase IV (Lig 4) deficiency (MIM #606593) is a rare autosomal recessive disorder related with impaired DNA damage-response mechanisms. Lig 4 syndrome has a broad clinical presentation; microcephaly, facial abnormality, sensitivity to ionizing radiation, combined immunodeficiency, progressive bone marrow failure and predisposition to malignancy. We describe the patient with Lig4 syndrome presented lissencephaly, growth failure and hypogonadism. The patient is a 18-years-old girl from Turkish consanguineous parents, admitted to our clinic was 13 years old due to growth retardation and short stature. She was born from 32 weeks, unfollowed pregnancy, weighing 2015 grams with normal delivery. She had dysmorphic facial features; long face, sloping forehead, high arched eyebrows, a low hairline at the back of the neck, malar hypoplasia, mild hypotelorism, narrow palpebral fissures and bulbous nose. She had lissencephaly and mental retardation. Her weight was 30 kg (sds:-2.58), height was 129 cm (sds:-4.17), head circumference was 46.7 cm (sds:-5.98), bone age was 10 years old. She has not had clinical signs and symptoms for immundeficiency but IgM level was below the average (<2SD) and leukopenia was presented. L-dopa and clonidine growth hormone stimulation tests were done and the results were diagnosed as growth hormon (GH) deficieny. GH treatment was not started because of unresponsive leukopenia. Primary amenorrhea and hypergonadotropic hypogonadism (FSH: 80.92 mIU/mL, LH: 14.59 mIU/mL, E2: <12 pg/mL, AMH:<0.001 ng/mL) was detected at the follow up, estrogen treatment was given for two years and then combined oral contraceptive treatment was started. “Nijmegen Breakage Syndrome (NBS)” and “Short stature, microcephaly, and endocrine dysfunction (MIM #616541)” were thought for differential diagnosis. However genetic analysis for NBN ve XRCC4 were normal. Homozygous early stop codon mutation on Lig 4 gene was detected (NM_206937.1), c.2440C>T (p.Arg814Ter) in Whole Exome Sequencing. Lig 4 syndrome should be considered in the differential diagnosis in cases with growth retardation, microcephaly, and gonadal failure. It is important to avoid ionizing radiation exposure in these patients. Patients with LIG 4 syndrome should be followed up immunodeficiency and malignancy.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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