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Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility

Nygren, David LU orcid ; Moll, Ulrika LU orcid ; Braun, Oscar LU ; Karlsson, Ulf LU and Jönsson, Göran LU (2025) In JCEM case reports 3(5).
Abstract

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included... (More)

Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C > T;p. (Arg1154Trp)) causing Cantú syndrome.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
JCEM case reports
volume
3
issue
5
article number
luaf068
external identifiers
  • pmid:40236613
ISSN
2755-1520
DOI
10.1210/jcemcr/luaf068
language
English
LU publication?
yes
additional info
© The Author(s) 2025. Published by Oxford University Press on behalf of the Endocrine Society.
id
06f431e3-12f9-4fcd-be81-a2f45bbe9219
date added to LUP
2025-05-28 12:09:47
date last changed
2025-05-28 16:35:11
@article{06f431e3-12f9-4fcd-be81-a2f45bbe9219,
  abstract     = {{<p>Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C &gt; T;p. (Arg1154Trp)) causing Cantú syndrome.</p>}},
  author       = {{Nygren, David and Moll, Ulrika and Braun, Oscar and Karlsson, Ulf and Jönsson, Göran}},
  issn         = {{2755-1520}},
  language     = {{eng}},
  number       = {{5}},
  series       = {{JCEM case reports}},
  title        = {{Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility}},
  url          = {{http://dx.doi.org/10.1210/jcemcr/luaf068}},
  doi          = {{10.1210/jcemcr/luaf068}},
  volume       = {{3}},
  year         = {{2025}},
}