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  • Images in Clinical Medicine

    Vertebra Plana with Spontaneous Healing

    Figure 1.

    • May 10, 2012
    • Tsai P.-Y. and Tzeng W.-S.
    • N Engl J Med 2012; 366:e30
    • Free Full Text

    A 3-year-old girl presented with a 3-week history of low back pain. Physical examination revealed mild tenderness over the upper lumbar spine.

  • Correspondence

    Clinical Phenotype and Mutant TRα1

    To the Editor: The action of thyroid hormone, which is essential for normal development and metabolism, is largely mediated by the binding of triiodothyronine (T3) to nuclear receptors (TRs), changing the expression of the genes responsive to thyroid hormone. Different TR isoforms are generated by…

    • April 12, 2012
    • N Engl J Med 2012; 366:1451-1453
    • Free Full Text

    A father and daughter with a mutation in the nuclear receptor gene for thyroid hormone (THRA) have abnormal levels of thyroid hormone, normal thyrotropin levels, growth retardation, and mildly delayed motor and cognitive development.

  • Images in Clinical Medicine

    Ectopic Thyroid Gland

    Figure 1.

    • March 8, 2012
    • Aalaa M. and Mohajeri-Tehrani M.R.
    • N Engl J Med 2012; 366:943
    • Free Full Text

    A 12-year-old girl presented with a lump in her neck. She had previously been found to have hypothyroidism and had been treated with levothyroxine.

  • Review Article

    Genomic Medicine: Genomics, Intellectual Disability, and Autism

    Intellectual disability, which is characterized by significant limitations in both intellectual functioning and adaptive behavior that begin before the age of 18 years, affects 1.5 to 2% of the population in Western countries. A diagnosis of intellectual disability is usually made when IQ testing…

    • February 23, 2012
    • Mefford H.C., Batshaw M.L., Hoffman E.P.
    • N Engl J Med 2012; 366:733-743
    • Free Full Text

    The authors discuss the substantive impact of recent advances in genomic technologies on the diagnosis and understanding of intellectual disability and autism.

  • Original Article

    Brief Report: Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

    It is still unknown how puberty in humans, occurring during the early years of the second decade of life, is initiated. The hallmark of puberty is increased secretion of the gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), which act in concert to stimulate the gonads…

    • February 16, 2012
    • Topaloglu A.K., Tello J.A., Kotan L.D., et al.
    • N Engl J Med 2012; 366:629-635

      Kisspeptin and neurokinin B stimulate gonadotropin-releasing hormone. The authors describe an inactivating mutation in the human kisspeptin gene KISS1 leading to failure of pubertal progression.

    • Images in Clinical Medicine

      Vernal Keratoconjunctivitis

      Figure 1.

      • February 16, 2012
      • Homme J. and Wiswell J.
      • N Engl J Med 2012; 366:647
      • Free Full Text

      An otherwise healthy 6-year-old boy presented to the ER with a 2-year history of what his mother referred to as “eye problems.” She reported noticing “whitish specks” surrounding both irises, which had been increasing in size.

    • Original Article

      Antenatal Thyroid Screening and Childhood Cognitive Function

      Active secretion of thyroid hormone in the fetus does not start until about 18 to 20 weeks' gestation. Studies in animals suggest that until fetal hormone secretion begins, the fetus is dependent on circulating free thyroxine (T4) in the mother for growth and development, including central nervous…

      • February 9, 2012
      • Lazarus J.H., Bestwick J.P., Channon S., et al.
      • N Engl J Med 2012; 366:493-501
      • CME

      In this randomized trial, antenatal screening (at a median gestational age of 12 weeks 3 days) and treatment for hypothyroidism did not result in improved cognitive function in children at 3 years of age.

    • Editorial

      The Debate over Thyroid-Function Screening in Pregnancy

      Maternal hypothyroidism in pregnancy has been associated with a range of adverse outcomes, most importantly miscarriage, preterm delivery, and reduced cognitive function in offspring. In surveys, almost half the obstetricians in private practices in Maine and the majority of obstetricians in a…

      • February 9, 2012
      • Brent G.A.
      • N Engl J Med 2012; 366:562-563

        Maternal hypothyroidism in pregnancy has been associated with a range of adverse outcomes, most importantly miscarriage, preterm delivery, and reduced cognitive function in offspring.1 In surveys, almost half the obstetricians in private practices in ...

      • Clinical Practice

        Delayed Puberty

        Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the authors' clinical recommendations. Stage. A 14-year-old…

        • February 2, 2012
        • Palmert M.R. and Dunkel L.
        • N Engl J Med 2012; 366:443-453
        • CME
        • Full Text Audio

        Puberty is considered delayed when it has not yet occurred at an age that is 2 to 2.5 SD later than average (traditionally, 14 years in boys and 13 years in girls). Constitutional delay of growth and puberty (CDGP) is the most common cause. Management of CDGP is discussed.

      • Original Article

        Childhood Adiposity, Adult Adiposity, and Cardiovascular Risk Factors

        During the past three decades, the prevalences of overweight and obesity in the pediatric population have increased substantially. Childhood obesity is a predictor of an increased rate of death, owing primarily to an increased risk of cardiovascular disease.– Forecasts suggest that the "obesity…

        • November 17, 2011
        • Juonala M., Magnussen C.G., Berenson G.S., et al.
        • N Engl J Med 2011; 365:1876-1885
        • Free Full Text
        • CME

        In four prospective cohort studies, obese adults who were overweight or obese in childhood had increased rates of cardiovascular risk factors. Those who were overweight or obese as children but not as adults had risks similar to the risks among those who were never obese.

      • Editorial

        Childhood Obesity and Coronary Heart Disease

        Obesity is the most common nutritional problem among children in both developed and underdeveloped countries. Despite efforts over the past decade to prevent and control obesity, data from the 2003–2006 National Health and Nutrition Examination Surveys (NHANES) show that 16.3% of children and…

        • November 17, 2011
        • Rocchini A.P.
        • N Engl J Med 2011; 365:1927-1929

          Obesity is the most common nutritional problem among children in both developed and underdeveloped countries. Despite efforts over the past decade to prevent and control obesity, data from the 2003–2006 National Health and Nutrition Examination Surveys (...

        • Perspective

          The Long-Term Effects of In Utero Exposures — The DES Story

          It has been 40 years since the Journal published a seminal article by Herbst et al. (1971;284:878-81) noting the association of in utero exposure to a synthetic nonsteroidal estrogen, diethylstilbestrol (DES), and the development of a rare clear-cell adenocarcinoma (CCA) of the vagina in young…

          • June 2, 2011
          • Goodman A., Schorge J., Greene M.F.
          • N Engl J Med 2011; 364:2083-2084

            In 1971, Herbst et al. reported an association between in utero exposure to diethylstilbestrol (DES) and development of clear-cell adenocarcinoma of the vagina — changing medical thinking about embryologic development of the genital tract and mechanisms of carcinogenesis.

          • Original Article

            Adolescent BMI Trajectory and Risk of Diabetes versus Coronary Disease

            Although obesity in adulthood is a well-documented risk factor for both type 2 diabetes and coronary heart disease, it remains unclear whether a longer history of relative overweight, starting earlier in life, poses an additional risk. Furthermore, whereas the trajectory of weight and height from…

            • April 7, 2011
            • Tirosh A., Shai I., Afek A., et al.
            • N Engl J Med 2011; 364:1315-1325
            • Free Full Text
            • CME

            This study followed healthy young men, with repeated measures of height and weight over a mean of 17.4 years. Elevated BMI in adolescence, even within the normal range, was found to be a substantial risk factor for later obesity-related disorders, including type 2 diabetes and CHD.

          • Editorial

            Assessing the Value of Treatments to Increase Height

            The use of growth hormone and estrogen has a long and often controversial history in the manipulation of growth. Pharmacologic interventions to increase growth in short children are increasingly common. We believe that the usefulness of growth-promoting treatments depends on well-designed studies…

            • March 31, 2011
            • Cuttler L. and Rosenfield R.L.
            • N Engl J Med 2011; 364:1274-1276

              The use of growth hormone and estrogen has a long and often controversial history in the manipulation of growth. Pharmacologic interventions to increase growth in short children are increasingly common. We believe that the usefulness of growth-promoting ...

            • Original Article

              Growth Hormone plus Childhood Low-Dose Estrogen in Turner's Syndrome

              Turner's syndrome, which results from partial or complete X-chromosome monosomy, occurs in about 1 in 2000 live female births and encompasses diverse clinical features, including short stature, ovarian dysgenesis, and neurocognitive problems. The marked short stature in Turner's syndrome (an…

              • March 31, 2011
              • Ross J.L., Quigley C.A., Cao D., et al.
              • N Engl J Med 2011; 364:1230-1242
              • Free Full Text

              This trial randomly assigned girls 5 to 12.5 years of age with Turner's syndrome to receive growth hormone, low-dose estrogen, neither, or both. Growth hormone increased adult height. Combining ultra-low-dose estrogen with growth hormone during childhood may optimize growth.

            • Clinical Practice

              Care of Transsexual Persons

              Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the author's clinical recommendations. Stage. A healthy and…

              • March 31, 2011
              • Gooren L.J.
              • N Engl J Med 2011; 364:1251-1257
              • CME
              • Full Text Audio

              A healthy and successful 40-year-old man finds it increasingly difficult to live as a male. In childhood, he preferred playing with girls and felt that he should have been one. After much agonizing, he has concluded that only sex reassignment can offer the peace of mind he craves.

            • Correspondence

              A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder

              To the Editor: Female-to-male sex reversal in humans is rare, and when it is familial, it is extremely rare. We describe a family with a 46,XX testicular disorder of sex development in which three adult males (two brothers and a paternal uncle) were determined to be female according to karyotype…

              • January 6, 2011
              • N Engl J Med 2011; 364:91-93
              • Free Full Text

              To the Editor: Female-to-male sex reversal in humans is rare, and when it is familial, it is extremely rare. We describe a family with a 46,XX testicular disorder of sex development in which three adult males (two brothers and a paternal uncle) were ...

            • Original Article

              Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

              Valproic acid, which has been used for the treatment of seizure for more than 30 years, has long been recognized as a teratogen. Maternal exposure to valproic acid monotherapy during the first trimester was first linked to an increased risk of congenital spina bifida in the 1980s–; subsequent…

              • June 10, 2010
              • Jentink J., Loane M.A., Dolk H., et al.
              • N Engl J Med 2010; 362:2185-2193
              • Free Full Text

              This large case–control study used a European database to assess associations between first-trimester valproic acid monotherapy and 14 malformations reported previously to be linked to valproic acid use in early pregnancy. Valproic acid monotherapy was associated with significantly increased risks for 6 of the 14 malformations, including spina bifida, atrial septal defect, cleft palate, hypospadias, polydactyly, and craniosynostosis, as compared with no antiepileptic-drug use or use of other antiepileptic drugs.

            • Case Records of the Massachusetts General Hospital

              Case 13-2010 — An 18.5-Month-Old Girl with Watery Diarrhea and Poor Weight Gain

              Presentation of Case. Dr. Sara V. Bates (Pediatric Service): An 18.5-month-old girl was seen in the pediatric gastroenterology clinic of this hospital because of watery diarrhea and poor weight gain. The patient was born to a multigravida mother after a full-term gestation. She was breast-fed for…

              • April 29, 2010
              • LeLeiko N.S., Gee M.S., Sadow P.M.
              • N Engl J Med 2010; 362:1619-1626

                An 18.5-month-old girl was seen in the pediatric gastroenterology clinic of this hospital because of watery diarrhea and poor weight gain. The child had been healthy until 12 months of age, when chronic watery diarrhea developed. Six months later, her weight had decreased to the fourth percentile for her age. Extensive studies of stool, ultrasonography of the abdomen, and upper and lower endoscopic examinations were normal. A sweat test was interpreted as borderline. A diagnostic test result was received.

              • Perspective

                Let's Move — Childhood Obesity Prevention from Pregnancy and Infancy Onward

                First Lady Michelle Obama unveiled her "Let's Move" campaign against childhood obesity on February 9, 2010. The program's main antiobesity strategies are empowering parents and consumers by revamping the nutritional labeling of products by the U.S. Department of Agriculture (USDA), improving the…

                • April 22, 2010
                • Wojcicki J.M. and Heyman M.B.
                • N Engl J Med 2010; 362:1457-1459
                • Free Full Text
                • Interactive/Multimedia

                The Let's Move campaign has potential for altering the course of the childhood obesity crisis. Janet Wojcicki and Dr. Melvin Heyman argue that to be a truly successful program, the campaign must stimulate prevention efforts targeting the youngest ...

              Page

              Medical Meetings Pediatrics Conferences and Meetings

              2012 Certifying Examinations of the American Board of Pediatrics

              The general pediatrics examination will be held in various cities, Oct. 16-18. Registration for first-time applicants is ongoing through May 3. Registration for re-registrants is ongoing through May 24. The following subspecialty examinations will be held in various cities: "Hospice and Palliative Medicine" (Oct. 4); "Pediatric Transplant Hepatology" (Oct. 11); "Pediatric Cardiology" (Nov. 7); "Pediatric Pulmonology" (Nov. 8); "Medical Toxicology" (Nov. 12); and "Pediatric Critical Care Medicine" (Nov. 14). Registration for first-time applicants is ongoing through April 30. Registration for re-registrants is ongoing through June 15.

              Contact the American Board of Pediatrics, 111 Silver Cedar Court, Chapel Hill, NC 27514-1513; or call (919) 929-0461; or fax (919) 918-7114 or (919) 929-9255; or see http://www.abp.org .

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