Clinical and molecular review of atypical congenital adrenal hyperplasia

Taninee Sahakitrungruang 대한소아내분비학회 2015 Annals of Pediatirc Endocrinology & Metabolism Vol.20 No.1

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17α-hydroxylase [P450c17], 11β-hydroxylase [P450c11β], 3β-hydroxysteroid dehydrogenase) in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein), and one electrontransfer protein (P450 oxidoreductase) account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called “atypical CAH”, the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates.

Surgical Skill Education in Thailand

Chucheep Sahakitrungruang 대한외과학회 2022 대한외과학회 학술대회 초록집 Vol.2022 No.11

Colon Cancer Prevention by Detection of APC Gene Mutation in a Family with Attenuated Familial Adenomatous Polyposis

Poovorawan, Kittiyod,Suksawatamnuay, Sirinporn,Sahakitrungruang, Chucheep,Treeprasertsuk, Sombat,Wisedopas, Naruemon,Komolmit, Piyawat,Poovorawan, Yong Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.10

Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

The prevalence of diabetic peripheral neuropathy in youth with diabetes mellitus

Sophausvaporn Piengjai,Boonhong Jariya,Sahakitrungruang Taninee 대한소아내분비학회 2023 Apem Vol.28 No.1

Purpose: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specificity of monofilament testing and noninvasive screening to diagnose DN compared with the gold standard nerve conduction study (NCS). Methods: Sixty-five Thai children and adolescents (39 females) diagnosed with diabetes before 15 years of age were included. All subjects were screened for DN by foot and neurological examinations, light touch sensation by 10 g Semmes-Weinstein monofilaments, and the Michigan Neuropathy Screening Instrument (MNSI). NCSs were used as the gold standard for diagnosis of DN. Results: Fifty-eight patients had type 1 diabetes (T1D), 5 patients had type 2 diabetes, and 2 patients had other types of diabetes. The mean age was 17.7±4.6 years (8–33 years). The prevalence of DN in this cohort was 12.3% by NCS. All subjects were asymptomatic. Mean diabetes duration did not differ between the groups (with DN 8.0±3.0 years vs. no DN 8.2±5.0 years). Notably, one patient with T1D developed DN within 3 years after diagnosis. Poor glycemic control was a significant risk factor for DN. Glycosylated hemoglobin was higher in the DN group (10.6%±2.3% vs. 8.5%±1.6%, P=0.008). The occurrence of diabetic nephropathy was associated with DN (prevalence rate ratio, 4.97; 95% confidence interval, 1.5–16.46). Foot and neurological examinations, monofilaments, and the MNSI failed to detect DN in all subjects with abnormal NCS. Conclusion: The prevalence of DN in pediatric-onset diabetes is not uncommon but mainly is subclinical. Poor glycemic control is the main risk factor. Noninvasive screening tests for DN exhibited poor diagnostic sensitivity in the pediatric population. Purpose: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specificity of monofilament testing and noninvasive screening to diagnose DN compared with the gold standard nerve conduction study (NCS).Methods: Sixty-five Thai children and adolescents (39 females) diagnosed with diabetes before 15 years of age were included. All subjects were screened for DN by foot and neurological examinations, light touch sensation by 10 g Semmes-Weinstein monofilaments, and the Michigan Neuropathy Screening Instrument (MNSI). NCSs were used as the gold standard for diagnosis of DN.Results: Fifty-eight patients had type 1 diabetes ( T1D), 5 patients had type 2 diabetes, and 2 patients had other types of diabetes. The mean age was 17.7±4.6 years (8–33 years). The prevalence of DN in this cohort was 12.3% by NCS. All subjects were asymptomatic. Mean diabetes duration did not differ between the groups (with DN 8.0±3.0 years vs. no DN 8.2±5.0 years). Notably, one patient with T1D developed DN within 3 years after diagnosis. Poor glycemic control was a significant risk factor for DN. Glycosylated hemoglobin was higher in the DN group (10.6%±2.3% vs. 8.5%±1.6%, P=0.008). The occurrence of diabetic nephropathy was associated with DN (prevalence rate ratio, 4.97; 95% confidence interval, 1.5–16.46). Foot and neurological examinations, monofilaments, and the MNSI failed to detect DN in all subjects with abnormal NCS.Conclusion: The prevalence of DN in pediatric-onset diabetes is not uncommon but mainly is subclinical. Poor glycemic control is the main risk factor. Noninvasive screening tests for DN exhibited poor diagnostic sensitivity in the pediatric population.

The prevalence of diabetic peripheral neuropathy in youth with diabetes mellitus

Sophausvaporn Piengjai,Boonhong Jariya,Sahakitrungruang Taninee 대한소아내분비학회 2023 Annals of Pediatirc Endocrinology & Metabolism Vol.28 No.1

Purpose: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specificity of monofilament testing and noninvasive screening to diagnose DN compared with the gold standard nerve conduction study (NCS). Methods: Sixty-five Thai children and adolescents (39 females) diagnosed with diabetes before 15 years of age were included. All subjects were screened for DN by foot and neurological examinations, light touch sensation by 10 g Semmes-Weinstein monofilaments, and the Michigan Neuropathy Screening Instrument (MNSI). NCSs were used as the gold standard for diagnosis of DN. Results: Fifty-eight patients had type 1 diabetes (T1D), 5 patients had type 2 diabetes, and 2 patients had other types of diabetes. The mean age was 17.7±4.6 years (8–33 years). The prevalence of DN in this cohort was 12.3% by NCS. All subjects were asymptomatic. Mean diabetes duration did not differ between the groups (with DN 8.0±3.0 years vs. no DN 8.2±5.0 years). Notably, one patient with T1D developed DN within 3 years after diagnosis. Poor glycemic control was a significant risk factor for DN. Glycosylated hemoglobin was higher in the DN group (10.6%±2.3% vs. 8.5%±1.6%, P=0.008). The occurrence of diabetic nephropathy was associated with DN (prevalence rate ratio, 4.97; 95% confidence interval, 1.5–16.46). Foot and neurological examinations, monofilaments, and the MNSI failed to detect DN in all subjects with abnormal NCS. Conclusion: The prevalence of DN in pediatric-onset diabetes is not uncommon but mainly is subclinical. Poor glycemic control is the main risk factor. Noninvasive screening tests for DN exhibited poor diagnostic sensitivity in the pediatric population.