Endocrine manifestations in Joubert syndrome—literature review

Elzbieta Marczak; Maria Szarras-Czapnik; Elzbieta Moszczyńska; Elzbieta Marczak; Maria Szarras-Czapnik; Elzbieta Moszczyńska

doi:10.3934/medsci.2023027

AIMS Medical Science

2023, Volume 10, Issue 4: 343-352. doi: 10.3934/medsci.2023027

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Endocrine manifestations in Joubert syndrome—literature review

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland

Received: 07 July 2023 Revised: 06 November 2023 Accepted: 26 November 2023 Published: 11 December 2023

Joubert syndrome (JS) is a heterogeneously inherited, rare, autosomal recessive disorder characterised by neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements and a distinctive cerebellar and brainstem malformation called the molar tooth sign (MTS). Patients with JS may develop hypothalamic-pituitary dysfunction, leading to growth hormone deficiency, hypothyroidism, adrenal insufficiency and hypogonadism. This review summarizes the screening, diagnosis, and management of these conditions in JS.
- Joubert syndrome,
- hypothyroidism,
- adrenal insufficiency,
- panhypopituitarism,
- micropenis
Citation: Elzbieta Marczak, Maria Szarras-Czapnik, Elzbieta Moszczyńska. Endocrine manifestations in Joubert syndrome—literature review[J]. AIMS Medical Science, 2023, 10(4): 343-352. doi: 10.3934/medsci.2023027

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Abstract

Joubert syndrome (JS) is a heterogeneously inherited, rare, autosomal recessive disorder characterised by neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements and a distinctive cerebellar and brainstem malformation called the molar tooth sign (MTS). Patients with JS may develop hypothalamic-pituitary dysfunction, leading to growth hormone deficiency, hypothyroidism, adrenal insufficiency and hypogonadism. This review summarizes the screening, diagnosis, and management of these conditions in JS.

Conflict of interest

All authors declare no conflicts of interest in this paper.

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