Severe neonatal cholestasis in <i>HNF1β</i> deficiency: a case report and literature review

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Abstract

Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment. We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk interruption syndrome and consequent hypopituitarism. The cholestasis was rapidly resolved with hormone therapy. Genetic analysis showed a de novo 17q chromosome deletion, including the HNF1β gene implicated in liver damage, and this was considered causative of the complex clinical phenotype. Our case highlights the relationship between congenital hypopituitarism and HNF1β gene deletion in 17q12 deletion syndrome as a severe neonatal cholestasis etiology, emphasizing the need to be especially vigilant in cases with associated hypoglycemia. Prompt endocrine evaluation and genetic testing are crucial in neonatal cholestasis to start targeted therapy and long-term monitoring, which could mitigate serious complications.

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Most cited references 24

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Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects.

Daniele Dubois-Laforgue, Erika Cornu, Cécile Saint-Martin … (2017)

Molecular defects of hepatocyte nuclear factor 1B (HNF1B) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term.

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DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations

Julia Vergier, Frederic Castinetti, Alexandru Saveanu … (2019)

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (<1 mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is evolutive combined anterior pituitary hormone deficiencies at pediatric age, which progress even during adulthood to panhypopituitarism. Therefore, patients’ follow-up throughout life is essential for adequate management.

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Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

Francesca De Rienzo, Simona Mellone, Simonetta Bellone … (2015)

Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review.

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Author and article information

Contributors

Chiara Gagliano: Role: Role: Role: Role:

Olga Burattini: Role: Role: Role: Role:

Luigi Paradisi: Role: Role:

Sarah Recchione: Role: Role:

Lucia Santoro: Role: Role: Role:

Laura Caponi: Role: Role: Role:

Annamaria Ciaschini: Role: Role: Role:

Maria Elena Lionetti: Role: Role:

Simona Gatti: URI : https://loop.frontiersin.org/people/2947934/overviewRole: Role: Role: Role:

Journal

Journal ID (nlm-ta): Front Pediatr

Journal ID (iso-abbrev): Front Pediatr

Journal ID (publisher-id): Front. Pediatr.

Title: Frontiers in Pediatrics

Publisher: Frontiers Media S.A.

ISSN (Electronic): 2296-2360

Publication date (Electronic): 04 April 2025

Publication date Collection: 2025

Volume: 13

Electronic Location Identifier: 1562573

Affiliations

[ ¹ ]Department of Pediatrics, University Polytechnic of Marche , Ancona, Italy

[ ² ]Laboratory of Medical Genetics, Azienda Ospedaliero Universitaria Delle Marche , Ancona, Italy

Author notes

Edited by: Valeria Dipasquale, University of Messina, Italy

Reviewed by: Michele Pinon, Ospedale Pediatrico Regina Margherita, Italy

Stefano Costa, University Hospital of Policlinico G. Martino, Italy

Weiyuan Fang, Fudan University, China

[* ] Correspondence: Simona Gatti s.gatti@ 123456univpm.it

Article

DOI: 10.3389/fped.2025.1562573

PMC ID: 12006077

SO-VID: 2c101e29-0eac-46b3-9d39-c77294349309

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 17 January 2025

Date accepted : 12 March 2025

Page count

Figures: 2, Tables: 2, Equations: 0, References: 24, Pages: 7, Words: 0

Funding

The author(s) declare that no financial support was received for the research and/or publication of this article.

Custom metadata

section-at-acceptance Pediatric Gastroenterology, Hepatology and Nutrition

Keywords: neonatal cholestasis,liver disease,congenital hypopituitarism,pituitary stalk interruption syndrome,17q12 deletion,hnf1β

Data availability:

Keywords: neonatal cholestasis, liver disease, congenital hypopituitarism, pituitary stalk interruption syndrome, 17q12 deletion, hnf1β

Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review

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