Klinefelter syndrome: are we missing opportunities for early detection?

Abstract:

:Klinefelter syndrome is a common condition that remains underdiagnosed, particularly prior to adulthood. Early detection could prevent morbidity and mortality, but the classic phenotype of small testes and tall stature may not be apparent until adolescence, and there is minimal guidance regarding whom to screen. We performed a retrospective study at Boston Children's Hospital in patients with the ICD-9 code for "Klinefelter syndrome" diagnosed prior to age 20 years, and determined age and reason for diagnosis, karyotype, heights, and comorbid conditions. Eighty percent had a 47,XXY karyotype, of whom half were diagnosed at age 11 to 19 years. The most common comorbidities were neurocognitive, including learning disabilities (67%), psychosocial problems (33%), and attention deficit disorder (27%). Subjects were only slightly taller than average in childhood (height standard deviation score = 0.64). These data show that Klinefelter syndrome is associated with long-standing comorbidities that frequently remain under-recognized; a karyotype should be considered in boys with neurocognitive problems.

journal_name

Clin Pediatr (Phila)

journal_title

Clinical pediatrics

authors

Nahata L,Rosoklija I,Yu RN,Cohen LE

doi

10.1177/0009922813493831

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

936-41

issue

10

eissn

0009-9228

issn

1938-2707

pii

0009922813493831

journal_volume

52

pub_type

杂志文章
  • Health supervision visits of very young children: time addressing 3 key topics.

    abstract:OBJECTIVE:To describe the time and actions on 3 key health topics during health supervision (HS) visits of children aged 0 to 1 years. METHOD:HS visits were observed at 5 offices. Parents provided demographics and children's measurements were obtained. Using special computer software, visits were observed for frequenc...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922809337530

    authors: Manning KM,Ariza AJ,Massimino TK,Binns HJ,Pediatric Practice Research Group.

    更新日期:2009-11-01 00:00:00

  • A view of Danish pediatric care.

    abstract::The Danish social system provides competent, accessible, continuous, and coordinated medical care to the pediatric population. The pediatrician does not deal with the routine aspects of well-infant and child care but is rather hospital based and acts on consultant to the generalists in his district. The generalist has...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992287501400409

    authors: Maisel JE

    更新日期:1975-04-01 00:00:00

  • Differential leukocyte count in infants of diabetic mothers. Increased band count associated with macrosomia.

    abstract::The differential leukocyte count was studied within the first 24 hours of life in 115 infants of diabetic mothers (IDMs) appropriate for gestational age (AGA), 16 IDMs large for gestational age (LGA), 104 infants of non-diabetic mothers (INM's) AGA, and 22 INMs-LGA. A significant "shift to the left" was found in IDM's...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992288602500806

    authors: Mimouni F,Porat S,Merlob P,Zaizov R,Reisner SH

    更新日期:1986-08-01 00:00:00

  • Acute hemiplegia in children complicating upper respiratory infections. Report of three cases with angiographic findings.

    abstract::Three children presented with acute onset of hemiplegia following an upper respiratory infection. Angiography revealed irregulaities, beading, and slow flow of a peripheral branch of a middle cerebral artery. In addition, one child had narrowing of the cervical segment of the internal carotid artery. An inflammatory a...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992287601501209

    authors: Zilkha A,Mendelsohn F,Borofsky LG

    更新日期:1976-12-01 00:00:00

  • Does an Eczema Action Plan Improve Atopic Dermatitis? A Single-Site Randomized Controlled Trial.

    abstract::The multitude of treatment options for atopic dermatitis (AD) makes management frustrating for providers and patients. Eczema action plans (EAPs) have been proposed to improve parental and provider management. We developed a single-site randomized controlled trial to evaluate the impact of an EAP on quality of life (Q...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1177/0009922818795906

    authors: Brown J,Weitz NW,Liang A,Stockwell MS,Friedman S

    更新日期:2018-12-01 00:00:00

  • Iron Packaging Regulations in the United States and Pediatric Morbidity: A Retrospective Cohort Study.

    abstract::Iron poisoning was a leading cause of pediatric morbidity and mortality. We sought to assess whether the removal of strict iron packaging requirements in 2003 resulted in an increase in iron-related morbidity and mortality in pediatric exposures. We performed a retrospective cohort study utilizing the National Poison ...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922819901010

    authors: Leonard JB,Hines EQ,Klein-Schwartz W

    更新日期:2020-05-01 00:00:00

  • The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46,XX Patients With Congenital Adrenal Hyperplasia.

    abstract::Prior to the 1990s, most 46,XX infants with clitoromegaly secondary to congenital adrenal hyperplasia were treated with feminizing genitoplasty to make their cosmetic appearance congruent with their genotypic sex. A 2006 consensus statement for the management of intersex disorders accepted input from patient advocates...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922818803407

    authors: Schoer MB,Nguyen PN,Merritt DF,Wesevich VG,Hollander AS

    更新日期:2018-12-01 00:00:00

  • Physicians' perspectives on referring obese adolescents to pediatric multidisciplinary weight management programs.

    abstract:OBJECTIVE:To identify factors that might influence physicians' referrals of obese adolescents to pediatric multidisciplinary weight management (PMWM) programs. DESIGN/METHODS:Survey of a national sample of 375 pediatricians (PDs) and 375 family physicians (FPs) explored program availability, referral history, desired ...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922810368287

    authors: Woolford SJ,Clark SJ,Gebremariam A,Davis MM,Freed GL

    更新日期:2010-09-01 00:00:00

  • Physician beliefs and knowledge about vaccinations. Are Cincinnati doctors giving their best shot?

    abstract::The purpose of this study was to examine the immunization beliefs and practices of physicians in our community. A two-page descriptive survey of immunization practices and knowledge of vaccine contraindications was sent to all community physicians on the staff of Children's Hospital Medical Center in Cincinnati, Ohio....

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992289603500205

    authors: Siegel RM,Schubert CJ

    更新日期:1996-02-01 00:00:00

  • Pneumococcal osteomyelitis. An unusual cluster of cases.

    abstract::Between 1979 and 1981, 22 children with osteomyelitis and/or septic arthritis were hospitalized at Soroka University Hospital. Streptococcus pneumoniae was cultured in five of the children, four of whom were under 2 years of age. In four other children under 2 years of age, Haemophilus influenzae was cultured. Staphyl...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992288502400305

    authors: Hadari I,Dagan R,Gedalia A,Jeanine N,Moses S

    更新日期:1985-03-01 00:00:00

  • Adherence to AAP practice guidelines for urinary tract infections at our teaching institution.

    abstract::Urinary tract infection (UTI) in children is a common diagnosis in general pediatric practice. Because of the potential severity and proven morbidity of such infections, the American Academy of Pediatrics (AAP) developed guidelines to better direct clinicians in the workup. This retrospective study sought to evaluate ...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922808319962

    authors: Shah L,Mandlik N,Kumar P,Andaya S,Patamasucon P

    更新日期:2008-11-01 00:00:00

  • Transient myeloproliferative disorder. In a neonate with Down syndrome. Immunophenotypic studies.

    abstract::This report describes the results of bone marrow leukocyte immunophenotypic studies, DNA index measurement, and chromosome analysis in a newborn with Down syndrome and transient myeloproliferative disorder. The infant's initial leukocytosis with immature cells in the peripheral blood and thrombocytopenia resolved with...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992288902800306

    authors: Cook JA,Raney B Jr,Innes DJ Jr,Normansell D

    更新日期:1989-03-01 00:00:00

  • Failure to clinically predict NICU hearing loss.

    abstract::Neonatal intensive care unit (NICU) survivors demonstrate handicapping sensorineural hearing loss up to 50 times more frequently than normal newborns, yet little is known about the etiology of the hearing loss. Theoretically, accurate identification and triage of a particular infant based on a clinical profile would b...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992289503400304

    authors: Eavey RD,Bertero Mdo C,Thornton AR,Herrmann BS,Joseph JM,Gliklich RE,Krishnamoorthy KS,Todres ID

    更新日期:1995-03-01 00:00:00

  • Serum immunoglobulin G subclasses in patients during acute hepatitis A.

    abstract::IgG subclasses were measured in sera of 47 patients with acute hepatitis A during the course of the disease. IgG1 and IgG3 serum levels were found to be elevated, whereas IgG2 and IgG4 subclass concentrations did not differ from that found in healthy control individuals. These findings indicate that, similar to the sp...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992289002900811

    authors: Muller C,Godl I,Leibl H,Eibl MM

    更新日期:1990-08-01 00:00:00

  • Risk Factors for Failed Newborn Otoacoustic Emissions Hearing Screen.

    abstract::Objective To identify any socioeconomic, demographic, neonatal, and perinatal factors that may be associated with failing the otoacoustic emissions (OAE) newborn hearing screen. Study Design A retrospective chart review was performed looking at hearing screens performed on 1272 newborn infants by OAE testing. Socioeco...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922815615826

    authors: Shahid R,Vigilante M,Deyro H,Reyes I,Gonzalez B,Kliethermes S

    更新日期:2016-10-01 00:00:00

  • Waist circumference to height ratio in children and adolescents.

    abstract:BACKGROUND:Waist circumference (WC) to height ratio (WC/HT) is used as a measure of central obesity. However, the optimum ratio that will separate populations with high from low cardiovascular risk remains controversial. This investigation evaluates an optimum WC/HT value to define central obesity in children. METHODS...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922814557784

    authors: Mehta SK

    更新日期:2015-06-01 00:00:00

  • Intravenous theophylline in pediatric status asthmaticus. A prospective, randomized, double-blind, placebo-controlled trial.

    abstract::This study was conducted to determine whether intravenous theophylline, added to inhaled albuterol and intravenous methylprednisolone, provides a clinically significant benefit in the treatment of pediatric status asthmaticus. Patients aged 2 to 10 years were randomized to receive either intravenous theophylline or pl...

    journal_title:Clinical pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1177/000992289503400905

    authors: Bien JP,Bloom MD,Evans RL,Specker B,O'Brien KP

    更新日期:1995-09-01 00:00:00

  • Changes in platelet count as a predictive tool in sickle cell acute vaso-occlusive crises: a pediatric study.

    abstract:OBJECTIVE:Studies have shown that platelets play an important role in the pathophysiology of vaso-occlusive crises (VOC) in sickle cell disease. This study investigates whether changes in platelet indices from baseline can be predictive of complications during acute pain crisis. METHODS:Data were obtained from pediatr...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922811399347

    authors: Shanley LA,Ebeling M,Titus MO

    更新日期:2011-07-01 00:00:00

  • Transcultural understanding of a hereditary disorder. Mucopolysaccharidosis VI in a Vietnamese family.

    abstract::A case study of a family referred for clarification of cultural issues illustrates how a transcultural psychiatric service developed in the pediatric hospital setting can be used to advantage. A Vietnamese family with an inherited disorder. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI), resisted gene...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992288902801009

    authors: Handelman L,Menahem S,Eisenbruch IM

    更新日期:1989-10-01 00:00:00

  • The effect of the Tylenol scare on parent's use of over-the-counter drugs.

    abstract::We administered a questionnaire to determine changes in parental use and administration of over-the-counter (OTC) drugs after cyanide-laced Extra-Strength Tylenol capsules caused the deaths of at least seven people in Illinois in 1982. Three hundred area parents were studied and divided into three equally sized groups...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992288402300806

    authors: Dershewitz RA,Levin GS

    更新日期:1984-08-01 00:00:00

  • Statement of Redundant Publication.

    abstract::For 'Factors Associated With Specific Language Impairment and Later Language Development During Early Life: A Literature Review' by Benjamas Prathanee, MA, Bandit Thinkhamrop, PhD, Sumalee Dechongkit, PhD; Clinical Pediatrics; Volume 46 Number 1, January 2007; 22-29; © 2007; SAGE Publications; 10.1177/0009922806297153...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章,已发布勘误

    doi:10.1177/0009922817720961

    authors:

    更新日期:2017-09-01 00:00:00

  • Serial procalcitonin levels to detect bacteremia in febrile neutropenia.

    abstract:BACKGROUND:Our objective was to evaluate serial procalcitonin (PCT) levels compared with an initial PCT level at admission in predicting bacteremia in pediatric febrile neutropenic oncology patients. PROCEDURE:Serum PCT levels were measured at admission (t0) and within 24 hours of admission (t1) in pediatric oncology ...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922812460913

    authors: Reitman AJ,Pisk RM,Gates JV 3rd,Ozeran JD

    更新日期:2012-12-01 00:00:00

  • Head and neck manifestations of epidermolysis bullosa.

    abstract::Although considerable attention has focused on the pathophysiology and external dermatologic consequences of epidermolysis bullosa (EB), head and neck mucosal manifestations pose specific management problems. The otolaryngologic aspects of EB, with emphasis on involvement and treatment of the ears, oral cavity and tee...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章,评审

    doi:10.1177/000992289203100204

    authors: Schaffer SR

    更新日期:1992-02-01 00:00:00

  • Embracing international children's rights: from principles to practice.

    abstract::As clinicians, pediatricians need to be cognizant of the how the principles of equity, social justice, and children's rights help to inform and guide us as we strive for the health and well being of all children. Children of the world are frequently the most vulnerable global citizens facing poverty, displacement, and...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922811417302

    authors: Oberg CN

    更新日期:2012-07-01 00:00:00

  • Neurologic manifestations of Mycoplasma pneumoniae infections: diverse spectrum of diseases. A report of six cases and review of the literature.

    abstract::Mycoplasma pneumoniae is a common cause of upper and lower respiratory tract infections of varying severity. It is also responsible for producing a wide spectrum of nonpulmonary manifestations including neurologic, hepatic, cardiac, and hematologic diseases. The neurologic manifestations are reported to be the most co...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章,评审

    doi:10.1177/000992280003900401

    authors: Smith R,Eviatar L

    更新日期:2000-04-01 00:00:00

  • Viralization due to Leydig cell tumor diagnosis by magnetic resonance imaging. Case management report.

    abstract::A 3-year-old boy who presented with signs of virilization had a Leydig cell tumor of the left testis that could not be detected by physical examination or by high resolution ultrasonography. His very small tumor was demonstrated by magnetic resonance imaging. The implications of adding this sensitive method of imaging...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992289002900712

    authors: Kaufman E,Akiya F,Foucar E,Grambort F,Cartwright KC

    更新日期:1990-07-01 00:00:00

  • Early identification of hearing loss: listen to parents.

    abstract::Families of 49 hearing-impaired children responded to a questionnaire requesting information about the identification of their child's hearing loss. Parents were the first to suspect the hearing loss in 48 cases but more often than not were told that the child would outgrow it or was too young to test. When profession...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992289103000202

    authors: Thompson MD,Thompson G

    更新日期:1991-02-01 00:00:00

  • Pediatric methylphenidate exposures: 7-year experience of poison centers in the United States.

    abstract::This study was undertaken to evaluate trends and toxicity of pediatric methylphenidate exposures; 1993 to 1999 national poison center data were analyzed. There were 12,917 exposures, increasing from 927 in 1993 to 2,445 in 1999. The majority of children during the entire study period experienced no effect (60.3%) or m...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/000992280304200210

    authors: Klein-Schwartz W

    更新日期:2003-03-01 00:00:00

  • Late ELISA Testing in Infants Born to HIV-Positive Mothers.

    abstract::We present the case of a young boy who was born to a human immunodeficiency virus (HIV)-positive mother and originally found to be uninfected. Evidence-based guidelines were followed regarding the mother's prenatal and infant's postnatal care, including the avoidance of breast milk. HIV DNA polymerase chain reaction q...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922815601032

    authors: Puertolas MV,Bolton MT,Steele RW

    更新日期:2016-06-01 00:00:00

  • Maternal low- and high-depressive symptoms and safety concerns for low-income preschool children.

    abstract:OBJECTIVES:Our objective was to examine the relationship between low- and high-level depressive symptoms in mothers' and children's risks in the areas of home and car safety, monitoring, and exposure to violence. METHODS:Participants included 978 mothers of preschool-age children who were interviewed about their home ...

    journal_title:Clinical pediatrics

    pub_type: 杂志文章

    doi:10.1177/0009922812473776

    authors: Conners-Burrow NA,Fussell JJ,Johnson DL,McKelvey LM,Whiteside-Mansell L,Bokony P,Kraleti S

    更新日期:2013-02-01 00:00:00