ABSTRACT
OBJECTIVES: To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH). METHODS: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed. RESULTS: In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene. CONCLUSIONS: FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.
Subject(s)
Hyperthyroxinemia, Familial Dysalbuminemic , Serum Albumin, Human , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Biomarkers/blood , Follow-Up Studies , Hyperthyroxinemia, Familial Dysalbuminemic/genetics , Hyperthyroxinemia, Familial Dysalbuminemic/diagnosis , Mutation , Prognosis , Serum Albumin, Human/genetics , Serum Albumin, Human/analysis , TurkeyABSTRACT
Objective: Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and glucagon-like peptide-1 (GLP-1) in the pathophysiology of PWS and BBS. Methods: The study included 12 children with PWS, 12 children with BBS, 13 pediatric obese controls (OC) and 12 pediatric lean controls (LC). Fasting serum ghrelin and GLP-1 levels were measured by ELISA. Results: In the PWS group, no significant difference was detected for median ghrelin levels when compared with OC and LC, which were 0.96 (0.69-1.15), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Similarly, there was no difference in PWS median GLP-1 levels when compared with OC and LC; 1.86 (1.5-2.94), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL, respectively. In the BBS group, there was no difference in median ghrelin levels when compared with OC and LC; 1.05 (0.87-1.51), 0.92 (0.72-1.20) and 1.13 (0.84-1.29) ng/mL, respectively. Neither was there a significant difference in median GLP-1 levels; 2.46 (1.91-4.17), 2.24 (1.62-2.78) and 2.06 (1.8-3.41) ng/mL for BBS, OC and LC, respectively. Conclusion: There were no differences in median fasting ghrelin or GLP-1 levels when comparing patients with PWS and BBS with obese or lean peers. However, similar studies with larger series are needed.
Subject(s)
Bardet-Biedl Syndrome , Ghrelin , Glucagon-Like Peptide 1 , Prader-Willi Syndrome , Humans , Ghrelin/blood , Child , Prader-Willi Syndrome/blood , Male , Glucagon-Like Peptide 1/blood , Female , Bardet-Biedl Syndrome/blood , Bardet-Biedl Syndrome/diagnosis , Adolescent , Pediatric Obesity/blood , Child, Preschool , Case-Control StudiesABSTRACT
Leydig cell tumors are the most common type of testicular sex cord stromal tumors. Presence of Y chromosome is associated with tumor risk in sex development disorder (DSD), however tumor development without Y chromosome are extremely rare. A 16-year-old boy diagnosed with Leydig cell tumor due to a mass in the right testis was referred after the right orchiectomy. In physical examination, left testis was 10 ml, and a labium residue in penoscrotal region with bilateral gynecomastia was present. Karyotype was 46,XX, and SRY was double-positive in FISH analysis. Ifosfamide, carboplatin and etoposide chemotherapy was initiated due to Leydig cell tumor. Here, we report the first pediatric case having 46,XX, SRY double-positive testicular DSD with Leydig cell tumor.