ESPE Abstracts (2022) 95 P1-141

1Dr. Sami Ulus Gynecology, Child Health and Diseases Education and Research Hospital, Pediatric Endocrinology, Ankara, Turkey; 2Dr. Sami Ulus Gynecology, Child Health and Diseases Education and Research Hospital, Genetics, Ankara, Turkey

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.

Case: The patient who applied with the cause of prolongedjaundice at the age of 40 days, was born 2620 grams at term, received mechanical ventilation during the neonatal period, and there was no consanguinity between the parents. On physical examination, his general condition was good, vitalsigns were normal, height 52 cm, body weight 4500-grams, anterior fontanel 3x3 cm, posterior fontanel closed, syndromicfacial appearance. In the examinations, TSH was 2.5µIU/ml, free T4 0.76ng/dl, free T3 3.61pg/ml. Glucose was 94mg/dl, Na was 136mEq/l, K was 4.44 mEq/L. anterior pituitaryhormones: Cortisol 3.0 µg/dl, ACTH 37 pg/ml, FSH 3.11 mIU/ml, LH 1.80 mIU/ml, total testosterone 103.39ng/dl, IGF1 46.7ng/ml, prolactin 20.89ng/ml. The peak cortisolresponse of the case to the low-dose ACTH stimulation test was 14µg/dl. Central adrenal insufficiency and central hypothyroidism were considered in the patient, hydrocortisoneand LT4 treatments were started. Neuroimaging wasperformed with the preliminary diagnosis of hypopituarism. The corpus callosum was found to be thin, and the lateralventricles were wide. Hearing test was abnormal. No visionproblems were detected. In the microarray analysis performedwith the diagnosis of panhypopituarism, 3q11.2q13.31 deletion and ZBTB20 haploinsufficiency were detected. Thefindings were reported to be associated with Primrose syndrome, which is caused by loss of ZBTB20 function.

Conclusion: Neurodevelopmental problems, hearing loss, corpus callosum dysgenesis, ataxia, seizures and endocrinological problems such as congenital hypothyroidism, growth hormone deficiency, delayed puberty and diabetesmellitus have been reported in Primrose syndrome. Central hypothyroidism and adrenal insufficiency accompanying this syndrome have not been reported before in the literature, and considering that the hypopituitarism in the patient may be associated with axis maturation failure, the treatment was planned to be discontinued gradually. The case with Primrose syndrome diagnosed early will be followed up for a long time and it will increase our experience in terms of endocrine effects. Literature and genetic data enable us to prevent unnecessary drug use in the follow-up of patients.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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