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1.
J Hum Genet ; 64(6): 561-572, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30858506

RESUMO

Variants have been identified in the embryonic ectoderm development (EED) gene in seven patients with syndromic overgrowth similar to that observed in Weaver syndrome. Here, we present three additional patients with missense variants in the EED gene. All the missense variants reported to date (including the three presented here) have localized to one of seven WD40 domains of the EED protein, which are necessary for interaction with enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2). In addition, among the seven patients reported in the literature and the three new patients presented here, all of the reported pathogenic variants except one occurred at one of four amino acid residues in the EED protein. The recurrence of pathogenic variation at these loci suggests that these residues are functionally important (mutation hotspots). In silico modeling and calculations of the free energy changes resulting from these variants suggested that they not only destabilize the EED protein structure but also adversely affect interactions between EED, EZH2, and/or H3K27me3. These cases help demonstrate the mechanism(s) by which apparently deleterious variants in the EED gene might cause overgrowth and lend further support that amino acid residues in the WD40 domain region may be mutation hotspots.


Assuntos
Anormalidades Múltiplas/genética , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/genética , Proteína Potenciadora do Homólogo 2 de Zeste/genética , Deformidades Congênitas da Mão/genética , Histona-Lisina N-Metiltransferase/genética , Complexo Repressor Polycomb 2/genética , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Criança , Simulação por Computador , Hipotireoidismo Congênito/etiologia , Hipotireoidismo Congênito/fisiopatologia , Anormalidades Craniofaciais/etiologia , Anormalidades Craniofaciais/fisiopatologia , Proteína Potenciadora do Homólogo 2 de Zeste/química , Feminino , Deformidades Congênitas da Mão/etiologia , Deformidades Congênitas da Mão/fisiopatologia , Histona-Lisina N-Metiltransferase/química , Humanos , Masculino , Simulação de Dinâmica Molecular , Taxa de Mutação , Mutação de Sentido Incorreto/genética , Complexo Repressor Polycomb 2/química , Conformação Proteica , Repetições WD40/genética , Sequenciamento Completo do Exoma
2.
J Pediatr Endocrinol Metab ; 31(7): 823-827, 2018 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-29953409

RESUMO

Background Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine replacement dose in patients with consumptive hypothyroidism is inappropriately higher than that in congenital hypothyroidism. Case presentation A 4-month-old boy presented with abdominal distention. Thyroid function tests (TFTs) revealed an elevated thyroid-stimulating hormone (TSH) level of 177 mU/L, normal free thyroxine (fT4) of 1.23 ng/dL, low free tri-iodothyronine (fT3) of 1.55 pg/mL and increased reverse T3 (rT3) of 1240 ng/dL. Abdominal ultrasound and magnetic resonance imaging (MRI) revealed multiple IHHs. Based on his TFTs, ultrasonography and MRI evidence, he was diagnosed with consumptive hypothyroidism, and L-thyroxine replacement at 15 µg/kg/day was started. The L-thyroxine dose was increased gradually to 35 µ/kg/day until a stabilising euthyroid status was achieved. By the age of 8 months, the TSH concentration was decreased to normal levels; the L-thyroxine dose was gradually reduced and finally discontinued at the age of 12 months. Repeat abdominal ultrasound and MRI revealed a reduction in the number and size of the haemangiomas. The TFTs were at normal reference levels. The patient remains in active follow-up. Conclusions Neonatal screening for congenital hypothyroidism is usually negative in cases of IHH, as seen in our case. A high index of suspicion is necessary to diagnose hypothyroidism in cases of IHH. The present case required very high doses of levothyroxine to achieve a euthyroid status. In cases of hypothyroidism in the first year of life with consumptive hypothyroidism caused by hepatic haemangioma, aggressive L-thyroxine replacement is required with no upper limit. The dose should be increased gradually until a stabilising euthyroid status is achieved.


Assuntos
Hipotireoidismo Congênito/etiologia , Hemangioma/complicações , Neoplasias Hepáticas/complicações , Índice de Gravidade de Doença , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/patologia , Humanos , Lactente , Masculino , Prognóstico , Hormônios Tireóideos/metabolismo , Tiroxina/administração & dosagem
3.
J Pediatr Endocrinol Metab ; 31(6): 609-617, 2018 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-29750647

RESUMO

BACKGROUND: Congenital hypothyroidism (CH) is one of the common causes of intellectual disability which can be prevented by early detection of an elevated thyroid stimulating hormone (TSH) level in the newborn and by treatment with thyroxine. In Thailand, neonatal TSH screening was implemented nationwide in 2005. The objective of the study was to determine the etiologies and the estimated incidences of CH in southern Thailand before and after the implementation of a neonatal TSH screening program in 2005. METHODS: The medical records of pediatric patients who were diagnosed with primary CH at Songklanagarind Hospital during 1995-2013 were retrospectively reviewed. The study was divided into two time periods: study period 1 (SP1) (1995-2004) and study period 2 (SP2) (2005-2013), the time before and after TSH program implementation. RESULTS: The most common form of CH during SP1 was overt permanent CH (66%), mostly caused by athyreosis or ectopic thyroid. In SP2, the most common form of CH was mild permanent CH (39%) (mostly due to dyshormonogenesis), followed by overt CH (32%) and transient CH (29%). The overall annual estimated incidence of CH per 10,000 live births in Songkhla Province was 1.69 (1:5021) in SP1, increasing to 4.77 (1:2238) in SP2; in all 14 provinces in southern Thailand, the estimated incidence was 1.24 (1:8094) in SP1 and 2.33 (1:4274) in SP2. CONCLUSIONS: Neonatal TSH screening has a significant impact on the increased detection of the mild form of permanent and transient CH cases, which may be important for the prevention of brain damage from less severe CH although this remains to be documented.


Assuntos
Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/etiologia , Triagem Neonatal , Tireotropina/sangue , Hipotireoidismo Congênito/sangue , Feminino , Implementação de Plano de Saúde , Humanos , Incidência , Recém-Nascido , Masculino , Programas Nacionais de Saúde , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Triagem Neonatal/normas , Estudos Retrospectivos , Tailândia/epidemiologia , Testes de Função Tireóidea , Tireotropina/análise
4.
Ital J Pediatr ; 43(1): 87, 2017 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-28938886

RESUMO

BACKGROUND: Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). CASE PRESENTATION: We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. CONCLUSIONS: In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.


Assuntos
Coristoma , Hipotireoidismo Congênito/etiologia , Diagnóstico Tardio , Síndrome de Prader-Willi/diagnóstico por imagem , Doenças da Língua/diagnóstico , Adulto , Hipotireoidismo Congênito/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Síndrome de Prader-Willi/fisiopatologia , Cintilografia/métodos , Doenças Raras , Glândula Tireoide
7.
Semin Nucl Med ; 47(2): 135-142, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28237002

RESUMO

Thyroid scintigraphy holds a key place in the etiologic workup of neonatal hypothyroidism. Routine screening for this disorder in maternity hospitals in industrialized countries, for nearly 40 years, has permitted early treatment and thereby helped to prevent its physical and mental complications. Neonatal hypothyroidism affects approximately 1 in 3000 births. The most common causes are abnormal thyroid gland development and defective hormone synthesis by an eutopic thyroid gland. The incidence of the latter has risen in recent years, for reasons that remain unclear. A thorough etiologic workup helps to determine the disease type. Current guidelines recommend thyroid imaging by means of ultrasound and scintigraphy. Ultrasound should be done by a practitioner trained to examine the cervical region of newborns, as the thyroid is very small and must be distinguished from the particular aspect of the "thyroid empty lodge." Ultrasound lacks sensitivity for detecting small ectopic glands but is the gold standard for measuring thyroid dimensions. Scintigraphy provides an etiologic diagnosis in most cases. The two isotopes used in this setting are technetium-99m and iodine-123. The latter isotope gives more contrast and allows the perchlorate discharge test to be performed to detect abnormal iodide organification in the neonate with an eutopic thyroid. If scintigraphy cannot be performed during the neonatal period, a postponed procedure can be achieved after 3 years of age. Close cooperation between the nuclear medicine physician and the pediatric endocrinologist is crucial for timely and optimized scintigraphy.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Medicina Nuclear/métodos , Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/etiologia , Hipotireoidismo Congênito/metabolismo , Humanos , Incidência , Percloratos/metabolismo , Cintilografia , Compostos de Sódio/metabolismo
8.
Arch Endocrinol Metab ; 61(5): 432-437, 2017 Sept-Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28225993

RESUMO

OBJECTIVES: To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. SUBJECTS AND METHODS: Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigraphy and 30 had previous T-US, which were compared to current ones. RESULTS: At the current T-US, the thyroid gland was not visualized in its normal topography in 10 patients (24.5%); 31 T-US showed topic thyroid, 17 with normal or increased volume due to probable dyshormonogenesis, 13 cases of hypoplasia and one case of left-lobe hemiagenesis. One patient had decreased volume due to central hypothyroidism. Scintigraphy scans performed 3-4 years earlier showed 100% agreement with current results. Comparisons with previous T-US showed concordant results regarding thyroid location, but a decrease in current volume was observed in eight due to the use of L-thyroxine, calling the diagnosis of hypoplasia into question. CONCLUSIONS: The role of T-US goes beyond complementing scintigraphy results. It allows inferring the etiology of CH, but it must be performed in the first months of life. An accurate diagnosis of CH will be attained with molecular study and the T-US can guide this early assessment, without therapy withdrawal.


Assuntos
Hipotireoidismo Congênito/diagnóstico por imagem , Glândula Tireoide/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/etiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Tiroxina/uso terapêutico , Fatores de Tempo , Ultrassonografia , Adulto Jovem
9.
Minerva Med ; 108(2): 116-123, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27973468

RESUMO

Iodine is an essential component of the thyroid hormones thyroxine (T4) and triiodothyronine (T3) produced by the thyroid gland. Iodine deficiency impairs thyroid hormone production and has adverse effects throughout life, particularly early in life as it impairs cognition and growth. Iodine deficiency remains a significant problem despite major national and international efforts to increase iodine intake, primarily through the voluntary or mandatory iodization of salt. Recent epidemiological data suggest that iodine deficiency is an emerging issue in industrialized countries, previously thought of as iodine-sufficient. International efforts to control iodine deficiency are slowing, and reaching the third of the worldwide population that remains deficient poses major challenges.


Assuntos
Iodo/deficiência , Oligoelementos/deficiência , Adolescente , Adulto , Criança , Hipotireoidismo Congênito/etiologia , Feminino , Saúde Global , Bócio/diagnóstico , Bócio/etiologia , Humanos , Recém-Nascido , Iodo/administração & dosagem , Iodo/urina , Masculino , Gravidez , Complicações na Gravidez/etiologia , Prevalência , Cloreto de Sódio na Dieta/administração & dosagem , Tireotropina/sangue , Tiroxina/sangue , Oligoelementos/urina , Tri-Iodotironina/sangue
11.
Zhonghua Yu Fang Yi Xue Za Zhi ; 50(8): 728-32, 2016 Aug 06.
Artigo em Chinês | MEDLINE | ID: mdl-27539527

RESUMO

OBJECTIVE: To investigate the epidemiologic characteristics and risk factors for congenital hypothyroidism (CH) in Beijing between the years 1989 and 2014. METHODS: Information on neonatal screening, and diagnoses and treatment of CH from 1989 to 2014 were obtained from the database of the Beijing Neonatal Screening Center. The screening parameter was thyroid-stimulating hormone (thyrotropin; TSH), which was measured by radioimmunoassay (RIA) from 1989 to 1995, enzyme-linked immunosorbent assay (ELISA) from 1996 to 2003, and time-resolved fluorescence immunoassay (DELFIA(®)) from 2004 to 2014. The cutoff value of each screening method was set as the international standard for the corresponding years (20 mIU/L from 1989 to 1995 and 10 mIU/L from 1996 to 2014). CH was diagnosed using "The Technical Specification of Diagnosis and Treatment of Phenylketonuria and Congenital Hypothyroidism" , published in 2010 by the Ministry of Health of the People's Republic of China. Data on live birth infants were obtained from Beijing obstetric quality reports. The incidence of CH using different screening methods was compared, and trends in annual incidence were analyzed. To exclude the influence of different screening methods, data from the years 2004 to 2014 were used to identify the risk factors for CH. RESULTS: Between 1989 and 2014, the incidence of CH in Beijing was 36.7 per 100 000 individuals, with permanent CH (PCH) and transient CH (TCH) having incidences of 16.4 per 100 000 and 15.9 per 100 000, respectively. The annual incidence of CH increased from 11.2 per 100 000 in 1989 to 51.0 per 100 000 in 2014 (χ(2)=119.02, P<0.001), with PCH increasing from 5.6 to 16.0 per 100 000 (χ(2)=34.38, P<0.001) and TCH increasing from 5.6 to 13.0 per 100 000 (χ(2)=26.93, P<0.001). Among the PCH cases, 70.44% (255/362) were thyroid dysgenesis or ectopic glands, while the other 29.56% (107/362) were dyshormonogenesis. Between 2004 and 2014, the incidence of CH in females (51.7/100 000) was higher than in males (37.0/100 000), and it was higher in post-term (334.5/100 000) and preterm births (77.8/100 000) than that in term births (41.4/100 000). It was also higher in the low birth weight (87.7/100 000) than the normal (42.4/100 000) and high birth weight (42.6/100 000) populations. CONCLUSIONS: Between 1989 and 2014, there was a tendency towards an increase in the overall incidence of CH, and the incidence of both PCH and TCH in Beijing. Female sex, preterm birth, older gestational age, low birth weight, and preterm birth were risk factors affecting the incidence of CH in Beijing.


Assuntos
Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/etiologia , Triagem Neonatal/métodos , Tireotropina/sangue , Pequim/epidemiologia , Peso ao Nascer , China , Hipotireoidismo Congênito/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Gravidez , Nascimento Prematuro/sangue , Radioimunoensaio , Fatores de Risco , Testes de Função Tireóidea
12.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 41(12): 1366-1370, 2016 Dec 28.
Artigo em Chinês | MEDLINE | ID: mdl-28070054

RESUMO

Van Wyk-Grumbach syndrome (VWGS) is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-year-old girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor. High degree of suspicion and timely diagnosis can prevent unnecessary surgical procedures because the symptoms can be reversed with thyroid hormone supplementation.


Assuntos
Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/diagnóstico , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/etiologia , Ovário/patologia , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Tiroxina/uso terapêutico , Adolescente , Hipotireoidismo Congênito/etiologia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Humanos , Hiperpituitarismo , Hiperplasia , Distúrbios Menstruais/etiologia , Hipófise/patologia , Síndrome
13.
Eur J Pediatr ; 175(2): 253-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26346241

RESUMO

UNLABELLED: Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in Central Serbia from 1983 to 2013. Newborn screening for CH was based on measuring neonatal thyroid-stimulating hormone (TSH) using a 30 mU/l cutoff (CO) until 12/1987 (P1), 15 mU/l until 12/1997 (P2), 10 mU/l until 12/2006 (P3), and 9 mU/l thereafter (P4). During the study period, there were 1,547,122 live births screened for CH. Primary CH was detected in 434 newborns, with incidence of 1:3728. With gradual lowering of the CO, the incidences of CH increased from 1:5943 in P1 to 1:1872 in P4 (p < 0.001). Incidence of CH with ectopic and enlarged gland doubled (p < 0.001), while prevalence of athyreosis remained relatively constant. The most prominent finding was the increase in the transient CH from none in P1 to 35 % of all CH patients in P4. CONCLUSION: The overall incidence of CH in Central Serbia during study period nearly tripled, with a significant increase in almost all etiological categories, and was associated with lowering TSH cutoffs as well as other yet unidentified factors. Further studies are needed to identify other factors associated with increasing incidence of CH. WHAT IS KNOWN: Congenital hypothyroidism (CH) is the main cause of preventable mental retardation. Recent reports have indicated a progressive increase in the incidence of primary CH throughout the world, partially explained by lowering of the TSH cutoff values. WHAT IS NEW: During the study period associated with lowering of the TSH cutoffs, the overall incidence of CH in Serbia tripled, including transient CH, ectopy, and dyshormonogenesis, while prevalence of athyreosis remained stable during 30 years. Significant increase in the incidence of both permanent and transient CH was observed, associated with lowering of TSH cutoffs as well as other yet unidentified factors.


Assuntos
Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/etiologia , Triagem Neonatal/métodos , Tireotropina/sangue , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Estudos Retrospectivos , Sérvia/epidemiologia
14.
Int J Dermatol ; 55(2): e87-93, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26547887

RESUMO

BACKGROUND: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected. OBJECTIVES: This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP. METHODS: Findings in IP patients and family members also diagnosed with IP in Porto Alegre, Brazil, during 2003-2012, were analyzed. RESULTS: Thirteen children and seven relatives were diagnosed with IP; 38.4% of cases were familial, and 61.5% were sporadic. Mean ± standard deviation follow-up was 46.08 ± 39.47 months. Frequencies of 100% and 85.7% for dermatologic manifestations, 23.0% and 0% for neurologic manifestations, 62.5% and 71.4% for dental manifestations, and 11.1% and 42.8% for ophthalmologic manifestations were found in affected children and relatives, respectively. Associated diseases include Wilms' tumor, myasthenia gravis, Still's syndrome, and congenital hypothyroidism. CONCLUSIONS: These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.


Assuntos
Incontinência Pigmentar/complicações , Neoplasias Renais/etiologia , Anormalidades Dentárias/etiologia , Tumor de Wilms/etiologia , Artrite Juvenil/etiologia , Criança , Pré-Escolar , Hipotireoidismo Congênito/etiologia , Humanos , Incontinência Pigmentar/genética , Incontinência Pigmentar/patologia , Lactente , Miastenia Gravis/etiologia , Unhas Malformadas/etiologia
15.
J Endocrinol ; 227(3): R51-71, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26416826

RESUMO

Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism. Alternatively, coexisting growth hormones or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits. Since TSH cannot be used as an indicator of euthyroidism, adequacy of treatment can be difficult to monitor due to a paucity of alternative biomarkers. This review will summarize the normal physiology of pituitary development and the hypothalamic-pituitary-thyroid axis, then describe known genetic causes of isolated central hypothyroidism and combined pituitary hormone deficits associated with TSH deficiency. Difficulties in diagnosis and management of these conditions will then be discussed.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/fisiopatologia , Hipófise/fisiopatologia , Hormônios Hipofisários/fisiologia , Hipotireoidismo Congênito/etiologia , Humanos , Recém-Nascido
16.
Horm Res Paediatr ; 84(6): 370-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26402613

RESUMO

BACKGROUND/AIMS: Patients developing neonatal thyroid dysfunction following maternal hysterosalpingography (HSG) involving the use of oil-soluble iodinated contrast medium (ethiodized oil) have been reported. The present study aimed to investigate the frequency and risk factors for neonatal thyroid dysfunction following HSG. METHODS: We studied 212 infants born to mothers who had become pregnant after undergoing HSG involving the use of ethiodized oil. RESULTS: Five of the 212 infants tested positive during congenital hypothyroidism screening; this frequency (2.4%) was higher than the recall rate among first congenital hypothyroidism screening results (0.7%) in Tokyo, Japan. Two of the 5 screening-positive infants showed hypothyroidism, and 3 showed hyperthyrotropinemia. The urinary iodine concentrations in 4 out of the 5 screening-positive infants were 1,150, 940, 1,570, and 319 µg/l. The subjects were divided into thyroid dysfunction (n = 5) and normal thyroid function (n = 207) groups. The median dosage of ethiodized oil in the thyroid dysfunction group was significantly higher than in the normal thyroid function group (20 vs. 8 ml, p = 0.033). CONCLUSION: When infertile women undergo HSG, the dosage of oil-soluble iodinated contrast medium should be as low as possible to minimize the risk of fetal or neonatal thyroid dysfunction.


Assuntos
Hipotireoidismo Congênito/etiologia , Meios de Contraste/efeitos adversos , Óleo Etiodado/efeitos adversos , Histerossalpingografia/efeitos adversos , Hipotireoidismo Congênito/sangue , Feminino , Humanos , Histerossalpingografia/métodos , Recém-Nascido , Gravidez , Testes de Função Tireóidea , Tireotropina/sangue
17.
Am J Med Genet A ; 167A(12): 3006-10, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26334766

RESUMO

Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"mental retardation" syndromes and the more severe genitopatellar syndrome. The SBBYS syndrome-causing mutations are clustered in the large exon 18 of KAT6B and almost exclusively lead to predicted protein truncation. An atypical KAT6B mutation, a de novo synonymous variant located in exon 16 (c.3147G>A, p.(Pro1049Pro)) was previously identified in three unrelated patients. This exonic mutation was predicted in silico to cause protein truncation through aberrant splicing. Here, we report three additional unrelated children with typical SBBYS syndrome and the KAT6B c.3147G>A mutation. We show on RNA derived from patient blood that the mutation indeed induces aberrant splicing through the use of a cryptic exonic splice acceptor site created by the sequence variant. Our results thus identify the synonymous variant c.3147G>A as a splice site mutation and a mutational hot spot in SBBYS syndrome.


Assuntos
Blefarofimose/genética , Hipotireoidismo Congênito/genética , Cardiopatias Congênitas/genética , Histona Acetiltransferases/genética , Deficiência Intelectual/genética , Instabilidade Articular/genética , Mutação , Blefarofimose/etiologia , Criança , Pré-Escolar , Hipotireoidismo Congênito/etiologia , Facies , Feminino , Cardiopatias Congênitas/etiologia , Humanos , Deficiência Intelectual/etiologia , Instabilidade Articular/etiologia , Masculino , Gravidez , Sítios de Splice de RNA , Processamento de RNA
18.
Endocrine ; 50(3): 674-80, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25762444

RESUMO

The aim of the replacement therapy with levothyroxine in congenital hypothyroidism (CH) is to correct hypothyroidism and ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence; therefore, we performed a multicenter observational study in a large population of patients with CH to assess the required levothyroxine dose to obtain euthyroidism. We recruited 216 patients with permanent CH classified into three groups (agenesia, ectopia, and in situ gland) on the basis of the thyroid imaging. The levothyroxine dose was recorded at 6 and 12 months and then yearly until 12 years of age. The daily levothyroxine requirement progressively decreased during the follow-up, irrespective of etiology. It was significantly lower in patients with in situ gland than in patients with athyreosis during the entire study period and with ectopic gland from the age of 1 year. The levothyroxine requirement at 6 months of age was correlated with the requirement at each later time-point. The daily dose was modified less frequently in patients with in situ thyroid (36 %) than in patients with ectopic gland (41.4 %) or with athyreosis (43.6 %). Patients with in situ gland required a lower dose than the other two subgroups. The dose at 6 months seems predictive of the requirement until 12 years of age. Euthyroidism may be achieved in pre-school and in-school patients by 3-4 and 2-3 µg/kg/day (70-90 and 60-80 µg/m(2)/day) of levothyroxine, respectively.


Assuntos
Hipotireoidismo Congênito/tratamento farmacológico , Tiroxina/administração & dosagem , Hipotireoidismo Congênito/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Disgenesia da Tireoide/complicações
19.
Horm Res Paediatr ; 83(2): 136-40, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25592445

RESUMO

A case is presented of foetal compensated hypothyroidism due to persisting low maternal serum FT4 at the beginning of pregnancy. Diagnosis was made by means of foetal ultrasound followed by foetal blood sampling because of atypical findings. Foetal thyroid hypertrophy resolved progressively as exogenous thyroxine was administered to the mother. This case highlights once again the importance of adequate thyroid function during pregnancy.


Assuntos
Autoanticorpos , Hipotireoidismo Congênito , Doenças Fetais , Doença de Graves , Tiroxina/administração & dosagem , Autoanticorpos/sangue , Autoanticorpos/imunologia , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/etiologia , Hipotireoidismo Congênito/imunologia , Feminino , Doenças Fetais/sangue , Doenças Fetais/tratamento farmacológico , Doenças Fetais/etiologia , Doenças Fetais/imunologia , Doença de Graves/sangue , Doença de Graves/tratamento farmacológico , Doença de Graves/imunologia , Humanos , Gravidez
20.
Ann Endocrinol (Paris) ; 76(1): 59-66, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25613936

RESUMO

Low dietary intake is associated with severe pathologies (especially goiter and cretinism) that affect life quality. Iodine deficiency disorders are a major public health problem worldwide. In fact, 246 million school-aged children have insufficient iodine intake (data from 2012). Extrapoling this value to general population leads to the estimation that 1.9 billion people have insufficient iodine intake. So, it is crucial to interpret correctly data from iodine status survey. The World Health Organization recommends urinary iodine as the main indicator for the assessment of iodine status in epidemiological surveys. To improve the result, some considerations can be taken into account by the biologist, epidemiologist or public health physician for the realization of epidemiological surveys. After a reminder about the physiological and physiopathological feature of iodine, a description of some useful parameters was made to improve the exploration of iodine status in epidemiological surveys.


Assuntos
Iodo/deficiência , Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/etiologia , Dieta , Doenças Endêmicas , Bócio/epidemiologia , Bócio/etiologia , Humanos , Iodo/administração & dosagem , Iodo/urina , Inquéritos Nutricionais , Estado Nutricional , Organização Mundial da Saúde
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