Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were i...Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were interviewed about aspects of CH and hearing.Audiological evaluation was performed on 80 participants,divided into two groups:with CH(n?50)and without CH(n紏30).Clinical and laboratory CH data were obtained from medical records,pure tone auditory thresholds and acoustic reflexes were analyzed.The auditory data was compared between groups.Student’s t-test and Chi-square were used for statistical analysis at a significance level of 5%(p<0.05).Results:The majority(78%),of the parents were unaware that CH when not treated early is a potential risk to hearing.There was no correlation between socioeconomic class and level of information about CH and hearing(p>0,05;p=0.026).There was a statistically significant difference between the auditory tone thresholds of the groups and between the levels of intensity necessary for the triggering of the acoustic reflex.The group with CH presented the worst results(p<0.05)and absence of acoustic reflex in a normal tympanometric condition.Conclusions:Children with CH are more likely to develop damage to the auditory system involving retrocochlear structures when compared to healthy children,and that the disease may have been a risk factor for functional deficits without deteriorating hearing sensitivity.The possible impacts of CH on hearing,when not treated early,should be more publicized among the parents/guardians of this population.展开更多
BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of co...BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement.CASE SUMMARY We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism(CH)diagnosed with CHF.The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine.He has developed normally without neurocognitive deficits.Abnormal liver function was observed in the patient at the age of 4 years and 11 mo,and elevated levels of liver function indices were persistent for 5 mo.Radiological imaging indicated hepatosplenomegaly without narrowing of the portal vein but dilated splenic vein.A liver biopsy confirmed the pathological features of CHF.Genetic testing revealed two novel homozygous mutations,namely,c.2141-3T>C variant in PKHD1 related to CHF and c.2921G>A(p.R974H)in DUOX2 related to CH.The patient was treated with compound glycyrrhizin tablet,ursodeoxycholic acid,and levothyroxine after diagnosis.The patient achieved a favorable clinical outcome during a follow-up period of over 2 years.CONCLUSION Herein,we report the first case of a Chinese boy with comorbidity of CHF and CH,carrying both PKHD1 gene and DUOX2 gene novel mutations.Liver biopsy and genetic testing should be considered for the diagnosis of coexistent liver disease in CH patients with unexplained abnormal liver function.展开更多
Background:Although congenital hypothyroidism(CH)has been widely studied in Western countries,CH incidence at different administrative levels in China during the past decade remains unknown.This study aimed to update ...Background:Although congenital hypothyroidism(CH)has been widely studied in Western countries,CH incidence at different administrative levels in China during the past decade remains unknown.This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China,which could be helpful in the planning and implementation of preventative measures.Methods:The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System.Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level.Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China,and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level.Results:A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified,yielding an incidence of 4.66 per 10,000 newborns screened(95%confidence interval[CI]:4.62–4.71).Neonates in central(risk ratio[RR]=0.84,95%CI:0.82–0.85)and western districts(RR=0.71,95%CI:0.69–0.73)had lower probability of CH cases compared with the eastern region.The CH incidence indicated a moderate positive global spatial autocorrelation(Global Moran I value=0.394,P<0.05),and the CH cases were significantly clustered in spatial distribution.A most likely city-cluster(log-likelihood ratio[LLR]=588.82,RR=2.36,P<0.01)and 25 secondary city-clusters of high incidence were scanned.The incidence of each province and each city in the mainland of China was estimated by kriging interpolation,revealing the most affected province and city to be Zhejiang Province and Hangzhou city,respectively.Conclusion:This study offers an insight into the space clustering of CH incidence at provincial and city scales.Future work on environmental factors need to focus on the effects of CH occurrence.展开更多
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid...Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.展开更多
Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties ar...Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.展开更多
Background: Familial clustering in patients withpermanent congenital hypothyroidism (CH) caused bythyroid dysgenesis (TD) has been reported in developedcountries. There is no information on familial TD fromdeveloping ...Background: Familial clustering in patients withpermanent congenital hypothyroidism (CH) caused bythyroid dysgenesis (TD) has been reported in developedcountries. There is no information on familial TD fromdeveloping countries.Methods: A total of 312 first degree relativesbelonging to 80 families of children with TD (group 1)and 40 families of age-matched normal children (group2) were screened by thyroid ultrasonography, serum totalthyroxine (T4) and thyroid stimulating hormone (TSH).Results: Thyroid scintigraphy revealed agenesis in78.7% of the patients, ectopic gland in 15%, and hypoplasiain 6.2%. The mean thyroid volumes were similar in parentsand siblings of both groups. Eight (10.6%) mothers in group1 were identified to have thyroid hypoplasia as comparedwith none in group 2 (P=0.03). Serum TSH was signifi cantlyhigher in group 1 than in group 2 (P=0.004). Sixteen (7.8%)subjects (6 mothers, 5 fathers, and 5 siblings) in group 1were found to have subclinical hypothyroidism as comparedto none in group 2 (P<0.05). Four families were identifiedto have thyroid developmental anomalies and abnormalthyroid functions accounting for 5% of cases of familial TDin our cohort.Conclusions: Thyroid developmental anomalies andthyroid function abnormalities are more frequent in firstdegree relatives of children with TD as compared with acontrol population. These findings suggest that possiblythere is a genetic component of TD in Indian patients.展开更多
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were interviewed about aspects of CH and hearing.Audiological evaluation was performed on 80 participants,divided into two groups:with CH(n?50)and without CH(n紏30).Clinical and laboratory CH data were obtained from medical records,pure tone auditory thresholds and acoustic reflexes were analyzed.The auditory data was compared between groups.Student’s t-test and Chi-square were used for statistical analysis at a significance level of 5%(p<0.05).Results:The majority(78%),of the parents were unaware that CH when not treated early is a potential risk to hearing.There was no correlation between socioeconomic class and level of information about CH and hearing(p>0,05;p=0.026).There was a statistically significant difference between the auditory tone thresholds of the groups and between the levels of intensity necessary for the triggering of the acoustic reflex.The group with CH presented the worst results(p<0.05)and absence of acoustic reflex in a normal tympanometric condition.Conclusions:Children with CH are more likely to develop damage to the auditory system involving retrocochlear structures when compared to healthy children,and that the disease may have been a risk factor for functional deficits without deteriorating hearing sensitivity.The possible impacts of CH on hearing,when not treated early,should be more publicized among the parents/guardians of this population.
基金Supported by National Natural Science Foundation of China,No.81870373Shanghai Hospital Development Center New Frontier Technology Joint Research Project,No.SHDC12017115and 2019 Shanghai“Innovative Action Plan of Science and Technology”Animal Research Project Guide,No.19140904301.
文摘BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement.CASE SUMMARY We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism(CH)diagnosed with CHF.The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine.He has developed normally without neurocognitive deficits.Abnormal liver function was observed in the patient at the age of 4 years and 11 mo,and elevated levels of liver function indices were persistent for 5 mo.Radiological imaging indicated hepatosplenomegaly without narrowing of the portal vein but dilated splenic vein.A liver biopsy confirmed the pathological features of CHF.Genetic testing revealed two novel homozygous mutations,namely,c.2141-3T>C variant in PKHD1 related to CHF and c.2921G>A(p.R974H)in DUOX2 related to CH.The patient was treated with compound glycyrrhizin tablet,ursodeoxycholic acid,and levothyroxine after diagnosis.The patient achieved a favorable clinical outcome during a follow-up period of over 2 years.CONCLUSION Herein,we report the first case of a Chinese boy with comorbidity of CHF and CH,carrying both PKHD1 gene and DUOX2 gene novel mutations.Liver biopsy and genetic testing should be considered for the diagnosis of coexistent liver disease in CH patients with unexplained abnormal liver function.
基金supported by a grant from the National Key Research and Development Program of China(No.2017YFC1001700).
文摘Background:Although congenital hypothyroidism(CH)has been widely studied in Western countries,CH incidence at different administrative levels in China during the past decade remains unknown.This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China,which could be helpful in the planning and implementation of preventative measures.Methods:The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System.Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level.Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China,and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level.Results:A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified,yielding an incidence of 4.66 per 10,000 newborns screened(95%confidence interval[CI]:4.62–4.71).Neonates in central(risk ratio[RR]=0.84,95%CI:0.82–0.85)and western districts(RR=0.71,95%CI:0.69–0.73)had lower probability of CH cases compared with the eastern region.The CH incidence indicated a moderate positive global spatial autocorrelation(Global Moran I value=0.394,P<0.05),and the CH cases were significantly clustered in spatial distribution.A most likely city-cluster(log-likelihood ratio[LLR]=588.82,RR=2.36,P<0.01)and 25 secondary city-clusters of high incidence were scanned.The incidence of each province and each city in the mainland of China was estimated by kriging interpolation,revealing the most affected province and city to be Zhejiang Province and Hangzhou city,respectively.Conclusion:This study offers an insight into the space clustering of CH incidence at provincial and city scales.Future work on environmental factors need to focus on the effects of CH occurrence.
基金Athanasia Stoupa received a research grant from the European Society for Paediatric Endocrinology (ESPE). Aurore Carré, Dulanjalee Kariyawasam, and Michel Polak received funding from Sandoz SAS and Merck Serono France, the French Society of Endocrinology and Paediatric Diabetology (SFEDP), and the French National Research Agency (ANR-21-CE14-0055-01-MITHY-PLA) .
文摘Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.
文摘Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.
文摘Background: Familial clustering in patients withpermanent congenital hypothyroidism (CH) caused bythyroid dysgenesis (TD) has been reported in developedcountries. There is no information on familial TD fromdeveloping countries.Methods: A total of 312 first degree relativesbelonging to 80 families of children with TD (group 1)and 40 families of age-matched normal children (group2) were screened by thyroid ultrasonography, serum totalthyroxine (T4) and thyroid stimulating hormone (TSH).Results: Thyroid scintigraphy revealed agenesis in78.7% of the patients, ectopic gland in 15%, and hypoplasiain 6.2%. The mean thyroid volumes were similar in parentsand siblings of both groups. Eight (10.6%) mothers in group1 were identified to have thyroid hypoplasia as comparedwith none in group 2 (P=0.03). Serum TSH was signifi cantlyhigher in group 1 than in group 2 (P=0.004). Sixteen (7.8%)subjects (6 mothers, 5 fathers, and 5 siblings) in group 1were found to have subclinical hypothyroidism as comparedto none in group 2 (P<0.05). Four families were identifiedto have thyroid developmental anomalies and abnormalthyroid functions accounting for 5% of cases of familial TDin our cohort.Conclusions: Thyroid developmental anomalies andthyroid function abnormalities are more frequent in firstdegree relatives of children with TD as compared with acontrol population. These findings suggest that possiblythere is a genetic component of TD in Indian patients.
