BSPED2023 Oral Communications Oral Communications 2 (3 abstracts)
Hypopituitarism – a rare manifestation in Joubert syndrome: About 4 cases
Elżbieta Marczak 1 , Maria Szarras-Czapnik 1 , Elżbieta Moszczyńska 1 , Małgorzata Wójcik 2 , Agata Zygmunt-Górska 2 , Jerzy Starzyk 2 , Karolina Czyżowska 3 & Agnieszka Zachurzok 3
1Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw, Poland. 2Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Krakow, Poland. 3Department of Pediatrics, Endocrinology and Diabetes, Medical University of Silesia, Katowice, Poland
Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.
Materials and methods: We report 4 cases of endocrine deficiencies in JS. Our series consisted of 3 boys and a girl. Endocrine evaluation was based on assessment of thyroid and adrenal function, serum levels of insulin-like growth factor 1 (IGF-1), IGF binding protein 3 (IGFBP-3), gonadotropins and testosterone.
Results: 2 boys were born with micropenis, basal testosterone levels were low, therefore in each case 3 doses of testosterone were administered at a monthly interval, starting at 3 months old. Treatment correlated positively with penile growth. Suspicion of GHD was based on undetectable levels of IGF-1 and in one case episodes of hypoglycaemia. Two children required early recombinant human growth hormone (rhGH) treatment. Hypothyroidism was confirmed in all cases, treated with l-thyroxine. Adrenal insufficiency was present in 3 cases. Therapeutic management consisted of hydrocortisone.
Conclusion: Joubert syndrome is multisystem disorder that may be variable with presentation Our goal was to emphasize the role of endocrine system disorders as the awareness of this condition is essential for appropriate intervention.
Volume 95
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Endocrine Abstracts
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