Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.
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.
Ana Pilar
AP
Nso-Roca
Francisco Carratalá
FC
Marco
Jose Mestre
JM
Ricote
Mercedes Juste
MJ
Ruiz
D014150:Antipsychotic Agents / Q000627:therapeutic use; D001827:Body Height; D002648:Child; D002653:Child Behavior Disorders / Q000188:drug therapy / Q000209:etiology; D002872:Chromosome Deletion; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D004700:Endocrine System Diseases / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D010641:Phenotype; D011629:Puberty, Precocious / Q000235:genetics* / Q000473:pathology; D018967:Risperidone / Q000627:therapeutic use; D013577:Syndrome
D014150:Antipsychotic Agents; D019382:Human Growth Hormone; D018967:Risperidone