Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.

Autor:	Odom J; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Karaviti LP; Department of Pediatrics, Division of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Hoyos-Martinez A; Department of Pediatrics, Division of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Dec 14; Vol. 37 (1), pp. 84-89. Date of Electronic Publication: 2023 Dec 14 (Print Publication: 2024).
DOI:	10.1515/jpem-2023-0249
Abstrakt:	Objectives: Pseudohypoparathyroidism (PHP1B) is most commonly caused by epigenetic defects resulting in loss of methylation at the GNAS locus, although deletions of STX16 leading to GNAS methylation abnormalities have been previously reported. The phenotype of this disorder is variable and can include hormonal resistances and severe infantile obesity with hyperphagia. A possible time relationship between the onset of obesity and endocrinopathies has been previously reported but remains unclear. Understanding of the condition's natural history is limited, partly due to a scarcity of literature, especially in children. Case Presentation: We report three siblings with autosomal dominant PHP1B caused by a deletion in STX16 who presented with early childhood onset PTH-resistance with normocalcemia with a progressive nature, accompanied by TSH-resistance and severe infantile obesity with hyperphagia in some, not all of the affected individuals. Conclusions: PHP1B from a STX16 deletion displays intrafamilial phenotypic variation. It is a novel cause of severe infantile obesity, which is not typically included in commercially available gene panels but must be considered in the genetic work-up. Finally, it does not seem to have a clear time relationship between the onset of obesity and hormonal resistance. (© 2023 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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