Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.

Abstract:

:Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that was diagnosed in the early neonatal period. Hypothyroidism in the first child of apparently unrelated parents was suspected because of the classical symptoms of congenital hypothyroidism, which were fully expressed already on the 11th day of life. Routine neonatal TSH-screening on the 4th day of life had been normal, but subsequent determination of serum thyroid hormone levels revealed almost undetectable levels and thyroid hormone substitution was immediately started. Because there was no indication for other pituitary hormone deficiencies, sequence analysis of the betaTSH gene was initiated. A homozygous T deletion in codon 105 was found resulting in a change of a highly conserved cysteine to valine followed by eight altered amino acids and a premature stop codon due to the frame-shift. This altered betaTSH is a biologically inactive peptide. Because of the early development of severe symptoms, it is possible that this altered TSH suppresses the physiologic constitutive activity of the unliganded TSH receptor. Rapid molecular diagnosis in this patient clarified the diagnosis without additional endocrine and imaging studies and it is concluded, that symptoms of hypothyroidism in the neonatal period should result always in an immediate comprehensive work-up of thyroid function including molecular genetic studies irrespective of the screening result.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Biebermann H,Liesenkötter KP,Emeis M,Oblanden M,Grüters A

doi

10.1203/00006450-199908000-00007

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

170-3

issue

2

eissn

0031-3998

issn

1530-0447

journal_volume

46

pub_type

杂志文章
  • Real-time spectral analysis of the fetal EEG: a new approach to monitoring sleep states and fetal condition during labor.

    abstract::Adverse perinatal events affecting cerebral functions are a major cause of neonatal mortality, morbidity, and long-term neurologic deficit. Intrapartum fetal EEG, which records fetal brain electrical activity, provides a monitoring modality for evaluating the fetal CNS during labor. In this study, we describe a new ap...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-200009000-00013

    authors: Thaler I,Boldes R,Timor-Tritsch I

    更新日期:2000-09-01 00:00:00

  • Dietary lecithin protects against cholestatic liver disease in cholic acid-fed Abcb4- deficient mice.

    abstract::Mutations in multidrug resistance 3 gene (MDR3 or ABCB4) underlie progressive familial intrahepatic cholestasis type 3 (PFIC3), a severe pediatric liver disease progressing to cirrhosis. Abcb4-/- mice exhibit slowly developing hepatic lesions that can be accelerated by feeding a cholic acid (CA)-supplemented diet. We ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/pdr.0b013e31802d7780

    authors: Lamireau T,Bouchard G,Yousef IM,Clouzeau-Girard H,Rosenbaum J,Desmoulière A,Tuchweber B

    更新日期:2007-02-01 00:00:00

  • Monocyte chemoattractant protein-1 and its receptor CCR-2 in piglet lungs exposed to inhaled nitric oxide and hyperoxia.

    abstract::Monocyte chemoattractant protein-1 (MCP-1), acting through its C-C chemokine receptor 2 (CCR-2), has important roles in inflammation, angiogenesis, and wound repair. The individual and combined effects of inhaled nitric oxide (NO) and hyperoxia on lung MCP-1 and CCR-2 in relation to lung leukocyte dynamics are unknown...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-200111000-00017

    authors: Ekekezie II,Thibeault DW,Garola RE,Truog WE

    更新日期:2001-11-01 00:00:00

  • Immune abnormalities in guinea pigs with asymptomatic congenital syphilis.

    abstract::Spleens from 1-20-wk-old guinea pigs infected in utero with Treponema pallidum and age-matched controls, born to normal and heat-killed (56 degrees C, 2 h.) T. pallidum-injected mothers, were examined for their in vitro lymphoproliferative response to phytohemagglutinin, concanavalin A, and lipopolysaccharide. Additio...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199712000-00013

    authors: Wicher V,Zhao J,Dilwith R,Burger R,Wicher K

    更新日期:1997-12-01 00:00:00

  • Interleukin-10 inhibits proinflammatory chemokine release by neutrophils of the newborn without suppression of nuclear factor-kappa B.

    abstract::An increase in polymorphonuclear leukocytes (PMNs) and proinflammatory chemokines, such as IL-8 and macrophage inflammatory protein-1 alpha (MIP), are found in the airways during early stages of bronchopulmonary dysplasia. We determined whether IL-10 produces a dose-related inhibition of proinflammatory chemokine rele...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000077471.36217.6E

    authors: Tryzmel J,Miskolci V,Castro-Alcaraz S,Vancurova I,Davidson D

    更新日期:2003-09-01 00:00:00

  • High-frequency oscillatory ventilation is not associated with increased risk of neuropathology compared with positive pressure ventilation: a preterm primate model.

    abstract::High-frequency oscillatory ventilation (HFOV) may improve pulmonary outcome in very preterm infants, but the effects on the brain are largely unknown. We hypothesized that early prolonged HFOV compared with low volume positive pressure ventilation (LV-PPV) would not increase the risk of delayed brain growth or injury ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181bb0cc1

    authors: Loeliger M,Inder TE,Shields A,Dalitz P,Cain S,Yoder B,Rees SM

    更新日期:2009-11-01 00:00:00

  • Skin reflectance in the newborn infant.

    abstract::Skin reflectance in red, green, and blue light was measured at the sternum of 99 Caucasian infants ranging in gestational age from 26 to 44 weeks. Skin reflectance was consistently higher in female infants, but this difference was not statistically significant. Highly significant (P less than 0.001) increases in refle...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197609000-00002

    authors: Krauss AN,Post PW,Waldman S,Auld PA

    更新日期:1976-09-01 00:00:00

  • Correction: Sex-specific alterations in preterm brain.

    abstract::In the original article, the legend within Fig. 3 incorrectly read as '*p < 0.10, **p < 0.05, ***p > 0.01'. This has now been changed to '*p < 0.10, **p < 0.05, ***p < 0.01'. This has been corrected in both the PDF and HTML versions of the Article. The authors would like to apologise for this error. ...

    journal_title:Pediatric research

    pub_type: 已发布勘误

    doi:10.1038/s41390-019-0323-x

    authors: Benavides A,Metzger A,Tereshchenko A,Conrad A,Bell EF,Spencer J,Ross-Sheehy S,Georgieff M,Magnotta V,Nopoulos P

    更新日期:2019-04-01 00:00:00

  • Urinary metabolomic markers of aminoglycoside nephrotoxicity in newborn rats.

    abstract:BACKGROUND:Aminoglycoside exposure is a common cause of acute kidney injury (AKI). Delay in the diagnosis of AKI using conventional biomarkers has been one of the important obstacles in applying early effective interventions. We tested the hypothesis that urinary metabolomics could identify novel early biomarkers for t...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2013.34

    authors: Hanna MH,Segar JL,Teesch LM,Kasper DC,Schaefer FS,Brophy PD

    更新日期:2013-05-01 00:00:00

  • Effects of dietary fish oil on intestinal adaptation in 20-day-old weanling rats after massive ileocecal resection.

    abstract::Long chain polyunsaturated fatty acids (LCPUFA)seem to be the most trophic macronutrients in inducing intestinal adaptation in adult short bowel syndrome (SBS), although their effects on intestinal adaptation in infants with SBS remain unknown.It is hypothesized that a high fat diet enriched with n-3 LCPUFA derived fr...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3181eb2ee5

    authors: Yang Q,Kock ND

    更新日期:2010-09-01 00:00:00

  • Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus.

    abstract::BackgroundPatent ductus arteriosus (PDA) is a common complication seen in preterm infants. Indomethacin is routinely used to treat PDA. Evidence suggests that the response of indomethacin is highly heritable. This study investigated the association between single-nucleotide polymorphisms (SNPs) in CYP2C9 and the closu...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2017.145

    authors: Smith CJ,Ryckman KK,Bahr TM,Dagle JM

    更新日期:2017-11-01 00:00:00

  • Placental phenotypes of intrauterine growth.

    abstract::The placenta is essential to nutrition before birth. Recent work has shown that a range of clearly defined alterations can be found in the placentas of infants with intrauterine growth restriction (IUGR). In the mouse, a placental specific knockout of a single imprinted gene, encoding IGF-2, results in one pattern of ...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/01.PDR.0000181381.82856.23

    authors: Sibley CP,Turner MA,Cetin I,Ayuk P,Boyd CA,D'Souza SW,Glazier JD,Greenwood SL,Jansson T,Powell T

    更新日期:2005-11-01 00:00:00

  • Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.

    abstract::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199101000-00012

    authors: Yamaguchi S,Orii T,Suzuki Y,Maeda K,Oshima M,Hashimoto T

    更新日期:1991-01-01 00:00:00

  • Quinolinate in brain and cerebrospinal fluid in rat models of congenital hyperammonemia.

    abstract::Children with inborn errors of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit cognitive deficits and neurologic abnormalities. Yet, there is evidence that ammonia is not the only neurotoxin. Hyperammonemia appears to induce a number of neurochemical alterations. In rodent models of hyperammon...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199210000-00021

    authors: Robinson MB,Heyes MP,Anegawa NJ,Gorry E,Djali S,Mellits ED,Batshaw ML

    更新日期:1992-10-01 00:00:00

  • The emergence of a circadian pattern in respiratory rates: comparison between control infants and subsequent siblings of SIDS.

    abstract::The objective of the present study is to compare the emergence of a circadian respiratory pattern in subsequent siblings of SIDS and controls infants to see whether the unique time and age of SIDS is correlated with altered circadian manifestations. During the first three months of life, a pattern in respiratory rates...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198004000-00018

    authors: Hoppenbrouwers T,Jensen DK,Hodgman JE,Harper RM,Sterman MB

    更新日期:1980-04-01 00:00:00

  • Total body electrical conductivity measurements: an evaluation of current instrumentation for infants.

    abstract::Quantitation of the body's fat and learn masses is an important component of nutritional assessment. Such measurements, however, are difficult to conduct routinely in infants due to the numerous limitations of traditional methods. The application of total body electrical conductivity measurements for quantitating fat-...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:

    authors: Fiorotto ML,de Bruin NC,Brans YW,Degenhart HJ,Visser HK

    更新日期:1995-01-01 00:00:00

  • Developmental regulation of the sarcoplasmic reticulum calcium pump in the rabbit heart.

    abstract::Previous studies have demonstrated that myocardial function changes during mammalian perinatal development. The purpose of this study was to evaluate the subcellular basis underlying the slower relaxation in the developing heart by examining perinatal changes in sarcoplasmic reticulum (SR) function, and in SR Ca2+ pum...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199205000-00012

    authors: Fisher DJ,Tate CA,Phillips S

    更新日期:1992-05-01 00:00:00

  • Modest hypothermia provides partial neuroprotection for ischemic neonatal brain.

    abstract::Hypothermia is a frequent occurrence in newborns, and thermoregulatory management is a fundamental part of medical stabilization. Although modest reduction in brain temperature (2-3 degrees C) before ischemia provides neuroprotection in adults, the effect of modest hypothermia on immature brain has not been examined. ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:

    authors: Laptook AR,Corbett RJ,Sterett R,Burns DK,Tollefsbol G,Garcia D

    更新日期:1994-04-01 00:00:00

  • Histidine decarboxylase activity in fetal intrauterine growth-retarded rats.

    abstract::Fetal intrauterine growth retardation was induced in nine rats at 17 days' gestation by ligating the blood supply to one of the uterine horn. The 27 festuses from the uterine vessel ligated side were the intrauterine growth retarded fetuses (IUGR) and the 37 fetuses from the nonligated side were controls. The mean wei...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197608000-00008

    authors: Kwong MS,Moore TC,Lemmi CA,Oh W,Thibeault DW

    更新日期:1976-08-01 00:00:00

  • Effects of oxygen-induced lung damage on megakaryocytopoiesis and platelet homeostasis in a rat model.

    abstract::The association between lung injury and thrombocytopenia was investigated by comparing the megakaryocyte and platelet counts, and platelet activation using P-selectin as a marker, between the prepulmonary (right atrial) and postpulmonary (left atrial) blood in adult and neonatal (preterm and term) rats with and withou...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000079186.86219.29

    authors: Yang J,Yang M,Xu F,Li K,Lee SK,Ng PC,Tam JS,Yuen PM,Fok TF

    更新日期:2003-09-01 00:00:00

  • Intrauterine fetal demise can be remote from the inciting insult in an animal model of hypoxia-ischemia.

    abstract:BACKGROUND:Fetal hypoxia-ischemia (H-I) results in significant morbidity and mortality. Little is known about the timing of death in human stillbirths. The vulnerability of the fetus varies with age at the time of insult, but it is unknown what happens to the timing of fetal death in relation to a fetal insult. We aske...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2012.65

    authors: Derrick M,Englof I,Drobyshevsky A,Luo K,Yu L,Tan S

    更新日期:2012-08-01 00:00:00

  • Corticosterone metabolism and the incorporation of leucine, uridine, and thymidine into fetal mouse brain.

    abstract::The change in the pattern of biotransformation of [14C]corticosterone in fetal mouse brain between gestational day 14 and 17 increased the proportion of unchanged hormone from 9-75%. A sharp decrease in the in vitro incorporation of [14C]leucine, [3H]uridine, and [3H]thymidine into incubated brain coincided with this ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197812000-00011

    authors: Tye LM,Michaud NJ,Burton AF

    更新日期:1978-12-01 00:00:00

  • Home documented monitoring of cardiorespiratory pattern and oxygen saturation in healthy infants.

    abstract::The objective of this study was to establish longitudinal normative limits for home memory monitors during early infancy. Eighty-eight healthy infants were monitored overnight at 0.25-19 wk of age using the Healthdyne Smart Monitor. Apnea settings were 14 s for recording and 40 s for alarm; the bradycardia setting was...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199602000-00005

    authors: Hunt CE,Hufford DR,Bourguignon C,Oess MA

    更新日期:1996-02-01 00:00:00

  • Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction.

    abstract::A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199011000-00023

    authors: Wallace DC,Lott MT,Lezza AM,Seibel P,Voljavec AS,Shoffner JM

    更新日期:1990-11-01 00:00:00

  • Automated determination of neutrophil VCS parameters in diagnosis and treatment efficacy of neonatal sepsis.

    abstract:INTRODUCTION:The Coulter LH780 hematology analyzer can evaluate mean neutrophil volume (MNV), conductivity (MNC), scatter (MNS), and distribution width (DW). We sought to investigate the value of volume, conductivity, and scatter (VCS) parameters in diagnosis and treatment efficacy of neonatal sepsis. RESULTS:We obser...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2011.16

    authors: Celik IH,Demirel G,Aksoy HT,Erdeve O,Tuncer E,Biyikli Z,Dilmen U

    更新日期:2012-01-01 00:00:00

  • Comprehensive genetic variant discovery in the surfactant protein B gene.

    abstract::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e3180a03232

    authors: Hamvas A,Wegner DJ,Carlson CS,Bergmann KR,Trusgnich MA,Fulton L,Kasai Y,An P,Mardis ER,Wilson RK,Cole FS

    更新日期:2007-08-01 00:00:00

  • Vitamin A deficiency and pulmonary oxygen toxicity: morphometric studies in the murine lung.

    abstract::Vitamin A and its precursor beta-carotene are naturally occurring antioxidants. The effects of diets deficient in beta-carotene and vitamin A on the alveolar-capillary membrane were studied in young adult BALB/C mice before and after exposure to 65% oxygen. One of three diets (standard complete, beta-carotene deficien...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198801000-00017

    authors: Cohen-Addad N,Bollinger R,Chou J,Poland R

    更新日期:1988-01-01 00:00:00

  • Serum copper and zinc concentration in premature and small-for-date infants.

    abstract::Serum copper (Cu) and zinc (Zn) concentrations were measured in neonates with an appropriate birth weight for gestational age (AGA) and in small-for-gestational age infants. At 7 days of age, there was a positive correlation between serum Cu concentration and gestational age (GA) (r = 0.63; P < 0.001) and a negative c...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198009000-00005

    authors: Sann L,Rigal D,Galy G,Bienvenu F,Bourgeois J

    更新日期:1980-09-01 00:00:00

  • Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.

    abstract::Based on the serum phenylalanine levels under free diet patients with hyperphenylalaninemia are classified as "classical" (>1200 micromol/L), "mild" (600-1200 micromol/L), or "non-phenylketonuria (PKU)-hyperphenylalaninemia" (<600 micromol/L). Recent studies revealed intellectual, neurologic, and neuropsychologic defi...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199709000-00020

    authors: Weglage J,Ullrich K,Pietsch M,Fünders B,Güttler F,Harms E

    更新日期:1997-09-01 00:00:00

  • Review of bilirubin neurotoxicity I: molecular biology and neuropathology of disease.

    abstract::Despite the availability of successful prevention strategies to prevent excessive hyperbilirubinemia, the neurological sequelae of bilirubin neurotoxicity (BNTx) still occur throughout the world. Kernicterus, encephalopathy due to BNTx, is now understood to be a spectrum of severity and phenotypes known as kernicterus...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1038/s41390-019-0608-0

    authors: Riordan SM,Shapiro SM

    更新日期:2020-01-01 00:00:00