Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Nicholas J Theis in
Google Scholar
PubMed
Search for other papers by Toby Calvert in
Google Scholar
PubMed
Search for other papers by Peter McIntyre in
Google Scholar
PubMed
Search for other papers by Stephen P Robertson in
Google Scholar
PubMed
Search for other papers by Benjamin J Wheeler in
Google Scholar
PubMed
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.
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by E Mogas in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by A Campos-Martorell in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by M Clemente in
Google Scholar
PubMed
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain
Search for other papers by L Castaño in
Google Scholar
PubMed
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain
Search for other papers by A Moreno-Galdó in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by D Yeste in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by A Carrascosa in
Google Scholar
PubMed
Summary
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results.
Learning points:
-
Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.
-
Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.
-
Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.
-
Treatment has been well tolerated and no side effects have been detected.
