Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2019, Vol 11, Issue 1
Abstract
We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less frequently seen in TS. These included recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite minimal treatment with growth hormone, behavioral problems and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells. While fluorescence in situ hybridization (FISH) failed to detect Y-chromosome material in gonadal tissue or blood samples, chromosomal microarray analysis (CMA) confirmed X monosomy and a 4.69 Mb copy number loss on 1q31.2q31.3 (bp 192,715,814 to 197,401,180). This region contains the CDC73 gene which has been associated with hyperparathyroidism-jaw tumor syndrome, features of which include recurrent, functional parathyroid adenomas and behavioral issues. This case illustrates how atypical features in a TS patient, such as robust growth and recurrent parathyroid adenomas, may suggest an underlying molecular etiology that should be explored by additional genetic diagnostic modalities. It is therefore appropriate in such cases to conduct further genetic testing, such as CMA and FISH, to explore other diagnostic possibilities and possibly prevent further complications.
Authors and Affiliations
Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez
Keywords
Related Articles
- EP ID EP543182
- DOI 10.4274/jcrpe.galenos.2018.2018.0005
- Views 171
- Downloads 0
Effect of Education on Impaired Hypoglycemia Awareness and Glycemic Variability in Children and Adolescents with Type 1 Diabetes Mellitus
Objective: The aim of this study was to determine the prevalence of impaired hypoglycemia awareness (IHA) in children and adolescents with type 1 diabetes mellitus using a professional continuous glucose monitoring (CGM)...
Use of Vitamin D in Children and Adults: Frequently Asked Questions
In recent years, the increase in interest and use of vitamin D has been attributed mainly to the extra-skeletal effects of vitamin D and confusion about normal reference values for serum 25-hydroxy vitamin D (25-OHD). Ho...
Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life
Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Methods: Data were collected from case records of subjects attending...
Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
Objective: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a dia...
High Prenatal Exposure to Bisphenol A Reduces Anogenital Distance in Healthy Male Newborns
Objective: To estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns. Methods: Pregnancy and birth history, together with body mass and length data, anogeni...