ESPE Abstracts

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.

Case: A 12-year-old 9-month-old male patient with an operated Wilm tumor followed in the oncology department was consulted our clinic in terms of endocrine complications of cancer treatment. It was learned that he was born on term, with 2850 gr. At the age of two, he underwent left nephrectomy due to Wilms tumor and received chemotherapy. Orchiectomy was performed at the age of four because of unilateral atrophic testis due to undescended testis (Pathology: immature testis tissue). He was followed up in the ophthalmology department due to aniridia. There was no consanguinity between the parents. On physical examination, height: 144.4 cm (-1.66 sds), weight: 38.5 kg (-1.17 sds), body mass index: 18.5 kg / m2 (-0.43 sds), blood pressure arterial :130/80 mmHg, left testis 15 ml and other system examinations were normal. In laboratory examination; complete blood count-biochemistry-thyroid function tests were normal, FSH:13.62 mIU/ml, LH:7.78 mIU/ml, total testosterone:344.73 ng/dl, AMH: 4.02 ng/ml. In scrotal USG, left testis was 26x12x12 mm, parenchyma echo was normal and millimetric microlithiasis was detected. His chromosomal microarray analysis revealed that a 7-mb deletion in the 11p14.1p12 region. When hypertension was detected at the age of 15, amlodipine treatment and also methylphenidate treatment were started for attention deficit/hyperactivity disorder. He is 18 years old and short for age and overweight now. His follow-up continues as multidisciplinary.

Result: Ambigus genitalia, undescended testis, hypospadias, polycystic ovary syndrome, streak ovary, obesity, short stature, metabolic syndrome, hyperlipidemia and rarely diabetes and adrenal insufficiency can be seen in cases with WAGR syndrome. We thought that multidisciplinary follow-up of patients with WAGR syndrome and endocrine evaluations from the first diagnosis are important.