Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases

Elżbieta Marczak; Maria Szarras-Czapnik; Małgorzata Wójcik; Agata Zygmunt-Górska; Jerzy Starzyk; Karolina Czyżowska; Anna Szymańska; Katarzyna Gołąb-Jenerał; Agnieszka Zachurzok; Elżbieta Moszczyńska; Elżbieta Marczak; Maria Szarras-Czapnik; Małgorzata Wójcik; Agata Zygmunt-Górska; Jerzy Starzyk; Karolina Czyżowska; Anna Szymańska; Katarzyna Gołąb-Jenerał; Agnieszka Zachurzok; Elżbieta Moszczyńska

doi:10.3934/medsci.2024022

AIMS Medical Science

2024, Volume 11, Issue 3: 318-329. doi: 10.3934/medsci.2024022

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Case report

Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases

1.
Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland
2.
Department of Pediatric and Adolescent Endocrinology, Children's University Hospital of Cracow, Poland
3.
Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Poland

Received: 24 May 2024 Revised: 22 August 2024 Accepted: 05 September 2024 Published: 18 September 2024

Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the “molar tooth sign” (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insufficiencies in the neonatal period, such as hypoglycemia and, in male patients, a micropenis with undescended testes. Although JS is a well-researched genetic condition, there is minimal information on the endocrinological aspects of JS. This manuscript aims to emphasize the spectrum of endocrinologic findings in JS through the retrospective evaluation of four cases characterized by combined pituitary dysfunctions, including secondary hypothyroidism, growth hormone deficiency, and panhypopituitarism. Highlighting these treatable aspects of JS is crucial, as continuous endocrinological monitoring can positively impact a patient's well-being, particularly in managing secondary adrenal and thyroid insufficiencies.
- Joubert syndrome,
- hypopituitarism,
- endocrine
Citation: Elżbieta Marczak, Maria Szarras-Czapnik, Małgorzata Wójcik, Agata Zygmunt-Górska, Jerzy Starzyk, Karolina Czyżowska, Anna Szymańska, Katarzyna Gołąb-Jenerał, Agnieszka Zachurzok, Elżbieta Moszczyńska. Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases[J]. AIMS Medical Science, 2024, 11(3): 318-329. doi: 10.3934/medsci.2024022

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Abstract

Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the “molar tooth sign” (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insufficiencies in the neonatal period, such as hypoglycemia and, in male patients, a micropenis with undescended testes. Although JS is a well-researched genetic condition, there is minimal information on the endocrinological aspects of JS. This manuscript aims to emphasize the spectrum of endocrinologic findings in JS through the retrospective evaluation of four cases characterized by combined pituitary dysfunctions, including secondary hypothyroidism, growth hormone deficiency, and panhypopituitarism. Highlighting these treatable aspects of JS is crucial, as continuous endocrinological monitoring can positively impact a patient's well-being, particularly in managing secondary adrenal and thyroid insufficiencies.

Abbreviations

ACTH

Adrenocorticotropic hormone

CAI

Central adrenal insufficiency

CPAP

Continuous positive airway pressure

DHEA-S

Dehydroepiandrosterone-sulfate

FSH

Follicle stimulating hormone

fT3

Free triiodothyronine

fT4

Free thyroxine

GC/MS

Gas chromatography–mass spectrometry

GHD

Growth hormone deficiency

IGF-1

Insulin-like growth factor 1

IGFBP-3

Insulin-like growth factor binding protein 3

Intramuscular injection

Joubert syndrome

Luteinizing hormone

MRI

Magnetic resonance imaging

Mass spectrometry

MTS

Molar tooth sign

Not applicable

PSIS

Pituitary stalk interruption syndrome

rhGH

Recombinant human growth hormone

Testosterone enanthate

TSH

Thyroid stimulating hormone

THs

Thyroid hormones

Ethics approval of research and informed consent

The study protocol was approved by the Research Ethics Committee of The Children's Health Memorial, Warsaw, Poland on 27.03.2024 (7/KBE/2024). Written informed consent was obtained from the parents or legal guardians of underage patients.

Conflict of interest

The authors declare no conflict of interest.

References

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