Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.

Abstract

12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental retardation and short stature but without osteopoikilosis. She also exhibited precocious puberty and growth hormone deficiency and required treatment for improving final height. This report adds further to the knowledge of the endocrinological anomalies in 12q14 microdeletion syndrome. It is important to perform growth hormone level measurements and pubertal signs to follow-up with these patients and avoid the consequential adult height worsening.

• Authors: Ana Pilar Nso-Roca, Francisco Carratalá Marco, Jose Mestre Ricote, Mercedes Juste Ruiz
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 27 Issue 5-6 Pg. 539-43 (May 2014) ISSN: 2191-0251 [Electronic] Germany
• PMID: 24468604 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antipsychotic Agents
• Human Growth Hormone
• Risperidone

Topics

• Antipsychotic Agents (therapeutic use)
• Body Height
• Child
• Child Behavior Disorders (drug therapy, etiology)
• Chromosome Deletion
• Dwarfism (genetics, pathology)
• Endocrine System Diseases (etiology, genetics, pathology)
• Female
• Human Growth Hormone (blood)
• Humans
• Intellectual Disability (complications)
• Phenotype
• Puberty, Precocious (genetics, pathology)
• Risperidone (therapeutic use)
• Syndrome