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Diagnosis and Treatment > Signs and Symptoms

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  • Cardiac malformations x
  • Face - coarse features x
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Nicholas J Theis Dunedin School of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

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Toby Calvert Dunedin School of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

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Peter McIntyre Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

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Stephen P Robertson Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

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Benjamin J Wheeler Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

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Summary

Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. We report a case where slowed growth velocity at 13 years led to identification of multiple pituitary hormone deficiencies. This adds to other reports of pituitary abnormalities in this condition and supports inclusion of endocrine monitoring in the clinical surveillance of patients with Cantu syndrome.

Learning points:

  • Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the ABCC9 and KCNJ8 genes, which result in gain of function of the SUR2 or Kir6.1 subunits of widely expressed KATP channels.

  • The main manifestations of the syndrome are varied, but most commonly include hypertrichosis, macrosomia, macrocephaly, coarse ‘acromegaloid’ facies, and a range of cardiac defects.

  • Anterior pituitary dysfunction may be implicated in this disorder, and we propose that routine screening should be included in the clinical and biochemical surveillance of patients with Cantu syndrome.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, ACTH, Cortisol, GH, IGF1, Prolactin, Testosterone, Condition/ Syndrome, Adrenal insufficiency, Hypopituitarism, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, White, Country of Treatment, New Zealand, Diagnosis and Treatment, Signs and Symptoms, Cardiac malformations, Face - coarse features, Fatigue, Growth retardation, Heart failure, Heart murmur, Hypertrichosis, Hypopituitarism, Investigation, ACTH stimulation, Bone age, Cortisol (plasma), Electrocardiogram, GH, IGF1, Molecular genetic analysis, MRI, Prolactin, Tanner scale, Testosterone, X-ray, Medication, GH, Glucocorticoids, Hydrocortisone, Testosterone, Related Disciplines, Cardiology, Genetics, Paediatrics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0103
Volume/Issue:
Volume 2019: Issue 1
Open access