Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
-
Ana Pilar Nso-Roca
,
Francisco Carratalá Marco
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.
Acknowledgments
We would like to thank Mireille Kamariza, PhD student 2012 at the Molecular and Cellular Biology Department, University of California (Berkeley), for help in the preparation of the manuscript.
References
1. Miller DT, Adam MP, Avadhya S, Biesecher LG, Brothman AR, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749–64.10.1016/j.ajhg.2010.04.006Search in Google Scholar PubMed PubMed Central
2. Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, et al. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 2007;44:264–8.10.1136/jmg.2006.047860Search in Google Scholar PubMed PubMed Central
3. Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, et al. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet 2009;17:1141–7.10.1038/ejhg.2009.27Search in Google Scholar PubMed PubMed Central
4. Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, et al. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur J Med Genet 2009;52:101–7.10.1016/j.ejmg.2009.03.001Search in Google Scholar PubMed
5. Spengler S, Schönherr N, Binder G, Wollmann HA, Fricke-Otto S, et al. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 2010;47:356–60.10.1136/jmg.2009.070052Search in Google Scholar PubMed
6. Lynch SA, Foulds N, Thuresson AC, Collins AL, Annerén G, et al. The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet 2011;19:534–9.10.1038/ejhg.2010.215Search in Google Scholar PubMed PubMed Central
7. Bibb AL, Rosenfeld JA, Weaver DD. Report of a mother and daughter with the 12q14 microdeletion syndrome. Am J Med Genet 2012;158A:417–22.10.1002/ajmg.a.34397Search in Google Scholar PubMed
8. Jurenka SB, Van Allen MI. Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome? Am J Med Genet 1995;57:6–9.10.1002/ajmg.1320570103Search in Google Scholar PubMed
©2014 by Walter de Gruyter Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original articles
- Assessment of hearing in children with type 1 diabetes mellitus
- Insulin resistance and lipid profiles in HIV-infected Thai children receiving lopinavir/ritonavir-based highly active antiretroviral therapy
- Increased hunger and speed of eating in obese children and adolescents
- Glucagon and insulin cord blood levels in very preterm, late preterm and full-term infants
- Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
- Prevalence of vitamin D deficiency and its related factors in children and adolescents living in North Khorasan, Iran
- Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
- A combined nutritional-behavioral-physical activity intervention for the treatment of childhood obesity – a 7-year summary
- The effect of earlier puberty on cardiometabolic risk factors in Afro-Caribbean children
- Prevalence of risk of deficiency and inadequacy of 25-hydroxyvitamin D in US children: NHANES 2003–2006
- Serum uric acid: relationships with biomarkers in adolescents and changes over 1 year
- Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka
- Investigation of adropin and leptin levels in pediatric obesity-related nonalcoholic fatty liver disease
- Diseases accompanying congenital hypothyroidism
- Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
- Are the characteristics of thyroid cancer different in young patients?
- Unsaturated fatty acids and insulin resistance in childhood obesity
- Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
- KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age
- Prevalence and risk factors of metabolic syndrome in school adolescents of northeast China
- Patient reports
- A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis
- Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
- Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke
- Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
- Absence of WNT4 gene mutation in a patient with MURCS association
- Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
- Adrenal insufficiency in association with congenital nephrotic syndrome: a case report
- Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa
- A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets
- Letter to the Editor
- Hyperbilirubinemia in neonates of diabetic mothers: an indirect biomarker of organ damage?
