The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life.


:Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operations and chronic medication on the quality of life in adult females with congenital adrenal hyperplasia. We performed a quality-of-life evaluation in adult female patients with congenital adrenal hyperplasia due to a 21-hydroxylation defect. The patients were asked to fill out questionnaires covering the four domains of health-related quality of life, namely physical state, psychological well-being, social relationships and functional capacity as well as questionnaires covering the areas of psychosexual identification and psychosocial integration. In addition a semistructured interview was performed covering medical history as well as physical, emotional, social and psychosexual development. The results were evaluated using a computerized statistical program for social sciences. Forty-five patients agreed to participate (44 could be interviewed) and their medical data did not differ from the 20 patients (medical data were available from 16 patients) who refused to participate. Median age at diagnosis was below 1 year in 54.8 of the participating patients; range was from 0 to 30 years. Of the participants, 48.6%, 34.2% and 17.2% suffered from the simple-virilizing-, salt-wasting-, and late-onset-form of congenital adrenal hyperplasia, respectively. The mean adult height was 157.8 cm, and mean weight was 56.8 kg. In 35.7% the degree of genital virilization was classified as Prader stage 3 or 4.(ABSTRACT TRUNCATED AT 250 WORDS)


Eur J Pediatr


Kuhnle U,Bullinger M,Schwarz HP




Has Abstract


1995-09-01 00:00:00












  • Effect of dexamethasone therapy on cerebral and ocular blood flow velocity in premature infants studied by colour Doppler flow imaging.

    abstract:UNLABELLED:Although dexamethasone (DEX) is used widely in neonates with chronic, and even recently with acute respiratory disease, its potential side-effects on human cerebral and ocular haemodynamics remain unknown. The effects of DEX on cerebral and ocular blood flow velocities were assessed in preterm infants with l...

    journal_title:European journal of pediatrics

    pub_type: 临床试验,杂志文章


    authors: Cabañas F,Pellicer A,García-Alix A,Quero J,Stiris TA

    更新日期:1997-01-01 00:00:00

  • Immunological observations before and after successful treatment of chronic mucocutaneous candidiasis with ketoconazole and transfer factor.

    abstract::A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Corbeel L,Ceuppens JL,Van den Berghe G,Claeys H,Casteels-Van Daele M

    更新日期:1984-11-01 00:00:00

  • Implantable cardioverter defibrillator implantation in children in The Netherlands.

    abstract:UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Ten Harkel AD,Blom NA,Reimer AG,Tukkie R,Sreeram N,Bink-Boelkens MT

    更新日期:2005-07-01 00:00:00

  • Frequency of coeliac disease in Hungarian children with type 1 diabetes mellitus.

    abstract::Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Arató A,Körner A,Veres G,Dezsöfi A,Ujpál I,Madácsy L

    更新日期:2003-01-01 00:00:00

  • Practical aspects of resuscitating asphyxiated newborn infants.

    abstract::Of all newborn infants, 5% require some degree of basic life support at birth. Newborn resuscitation therefore is one of the most frequent procedures carried out in medicine. It is therefore important that the routines in use are evidence based. Newborn resuscitation can be divided into ten steps: (1) initial stabilis...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Saugstad OD

    更新日期:1998-01-01 00:00:00

  • Intracranial bleeding during therapy with L-asparaginase in childhood acute lymphocytic leukemia.

    abstract::Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Urban C,Sager WD

    更新日期:1981-11-01 00:00:00

  • Haemophilus paraphrophilus, a rare cause of intracerebral abscess in children.

    abstract::We report on a 3-year-old boy presenting with left-sided eyelid myocloni due to an intracranial abscess harboring Haemophilus paraphrophilus. This is the first description of an intracranial infection with this pathogen in a child. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Hoefele J,Kroener C,Berweck S,Peraud A,Grabein B,Wintergerst U,Liese J

    更新日期:2008-06-01 00:00:00

  • Successful intravenous immunoglobulin therapy for recurrent pneumococcal otitis media in young children.

    abstract::Serum immunoglobulin levels and naturally occurring antibody titres against Streptococcus pneumoniae were measured in seven children aged 1-1.9 years with recurrent pneumococcal acute otitis media (AOM). Three of them had low IgG2 levels. Mean antibody levels of anti-pneumococcal IgG1 and anti-pneumococcal IgG2 were s...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Ishizaka A,Sakiyama Y,Otsu M,Ozutsumi K,Matsumoto S

    更新日期:1994-03-01 00:00:00

  • A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.

    abstract:UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

    更新日期:2001-11-01 00:00:00

  • Evaluation of long term tobramycin therapy in patients with cystic fibrosis and advanced pulmonary disease.

    abstract::To nine cystic fibrosis patients with chronic bronchopulmonary infection of severely damaged lungs invaded by Pseudomonas aeruginosa, eleven courses of prolonged tobramycin treatment (5 mg/kg/day) for four to 16 weeks were administered. Pulmonary symptoms improved and a better quality of life was achieved in all but o...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Paporisz U,Posselt HG,Wönne R,Ristow W,Röser D,Knothe H,Bender SW

    更新日期:1979-04-03 00:00:00

  • Serotype distribution and antimicrobial susceptibility of Streptococcus pneumoniae causing invasive infections and acute otitis media in children.

    abstract:UNLABELLED:A prospective study was conducted to determine the serotypes and antibiotic resistance patterns of pneumococcal isolates from children with invasive pneumococcal disease (IPD) and acute otitis media (AOM). From October 2001 to May 2002, 65 children with IPD (28 bacteraemic pneumonia, 24 bacteraemia without f...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Zissis NP,Syriopoulou V,Kafetzis D,Daikos GL,Tsilimingaki A,Galanakis E,Tsangaropoulou I

    更新日期:2004-07-01 00:00:00

  • What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

    abstract::Hypoglycaemia in children can be a life-threatening situation that needs to be assessed rigorously in order to treat efficiently and avoid relapse that can be responsible for cerebral damage. The diagnosis of impairment in glucose homeostasis requires the knowledge of the mechanisms regulating blood glucose concentrat...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Valayannopoulos V,Romano S,Mention K,Vassault A,Rabier D,Polak M,Robert JJ,de Keyzer Y,de Lonlay P

    更新日期:2008-03-01 00:00:00

  • Growth and sexual development in children with meningomyelocele.

    abstract::Forty-five children (25 girls; 20 boys) with meningomyelocele (MMC) were assessed for growth, skeletal maturation and pubertal development. The spinal defects were operated on shortly after birth and all children required cerebral drainage for hydrocephalus. Standard deviation scores for height, sitting height, sub-is...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Greene SA,Frank M,Zachmann M,Prader A

    更新日期:1985-07-01 00:00:00

  • Evidence that calcitonin plays a role in the postnatal increase of serum 1 alpha,25-dihydroxyvitamin D.

    abstract::To investigate the changes in the 1 alpha,25-dihydroxyvitamin D [1,25(OH)2D] level and the role of parathyroid hormone (PTH) and calcitonin (CT) during the early neonatal periods, we measured 1,25(OH)2D, 25-hydroxyvitamin D [25(OH)D], PTH specific for mid-regions (mPTH) and urinary cAMP (UcAMP) to evaluate the renal t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Nishioka T,Yasuda T,Niimi H,Nakajima H

    更新日期:1988-02-01 00:00:00

  • Low thyroxinaemia occurs in the majority of very preterm newborns.

    abstract:UNLABELLED:Transient hypothyroxinaemia with normal thyroid stimulating hormone (TSH) levels is a well-known condition in preterm neonates and is generally assumed to be a harmless epiphenomenon of prematurity. This assumption is, however, based on studies that included very few neonates with a gestational age (GA) belo...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Rooman RP,Du Caju MV,De Beeck LO,Docx M,Van Reempts P,Van Acker KJ

    更新日期:1996-03-01 00:00:00

  • Ethical issues about the paradigm shift in the treatment of children with trisomy 18.

    abstract::Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Silberberg A,Robetto J,Grimaux G,Nucifora L,Moreno Villares JM

    更新日期:2020-03-01 00:00:00

  • International survey on diagnosis and management of hypotension in extremely preterm babies.

    abstract:UNLABELLED:Hypotension is a commonly diagnosed and treated complication of extremely low gestational age newborns (ELGAN), but enormous variation in diagnosis, management and clinical practice has been documented. We sought to evaluate practice regarding the management of hypotension in ELGANs and developed a web-based...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究


    authors: Stranak Z,Semberova J,Barrington K,O'Donnell C,Marlow N,Naulaers G,Dempsey E,HIP consortium.

    更新日期:2014-06-01 00:00:00

  • The calorie intake and weight gain of low birth weight infants fed on fresh breast milk or a special formula milk.

    abstract::The calorie intake and weight gain of 24 low birth weight (LBW) infants, less than 33 weeks gestation and less than 1500 g birth weight, was studied prospectively. Fourteen infants were fed on a commercially available LBW formula milk and ten were fed on their own mother's fresh unpasteurised expressed breast milk (EB...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Hendrickse WA,Spencer SA,Roberton DM,Hull D

    更新日期:1984-11-01 00:00:00

  • Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

    abstract::Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We re...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Khalifa O,Imtiaz F,Al-Sakati N,Al-Manea K,Verloes A,Al-Owain M

    更新日期:2011-01-01 00:00:00

  • Oral zinc sulphate as primary therapeutic intervention in a child with Wilson disease.

    abstract::An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Milanino R,Marrella M,Moretti U,Velo GP,Deganello A,Ribezzo G,Tatò L

    更新日期:1989-06-01 00:00:00

  • Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.

    abstract:UNLABELLED:Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive r...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Wiesmann UN,Suormala T,Pfenninger J,Baumgartner ER

    更新日期:1998-03-01 00:00:00

  • A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.

    abstract:UNLABELLED:Gain-of-function mutations of the extracellular calcium (Ca(2+)e)-sensing receptor (CaR) have been identified in patients with familial and sporadic hypercalciuric hypocalcaemia. We describe a patient with sporadic severe hypercalciuric hypocalcaemia with undetectable or very low levels of serum parathyroid ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Shiohara M,Mori T,Mei B,Brown EM,Watanabe T,Yasuda T

    更新日期:2004-02-01 00:00:00

  • Predictors of intracranial injuries in children after blunt head trauma.

    abstract:UNLABELLED:This study was conducted to determine if clinical features can predict the risk of intracranial injury (ICI) in pediatric closed head trauma. We enrolled 3,806 children under 16 years consecutively referred for acute closed head trauma to the paediatric emergency room of five Italian children's hospitals. Re...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究


    authors: Da Dalt L,Marchi AG,Laudizi L,Crichiutti G,Messi G,Pavanello L,Valent F,Barbone F

    更新日期:2006-03-01 00:00:00

  • A time for reappraisal of "atypical" hemolytic uremic syndrome: should all patients be treated the same?

    abstract:UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Ruebner RL,Kaplan BS,Copelovitch L

    更新日期:2012-10-01 00:00:00

  • Phenytoin elimination kinetics in two children with drug intoxication.

    abstract::Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Abe K,Okano M,Sasaki H

    更新日期:1980-10-01 00:00:00

  • Development of children with early cytomegalovirus infection.

    abstract::To find out whether cytomegalovirus (CMV) infection during the first months of life influences child development, developmental assessment at the age of 2 years was performed on 116 Finnish children chosen at random in a maternity hospital and followed from birth for the occurrence of CMV infection. Two of the childre...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Granström ML

    更新日期:1979-01-01 00:00:00

  • Is there a difference in head posture and cervical spine movement in children with and without pediatric headache?

    abstract::Pediatric headache is an increasingly reported phenomenon. Cervicogenic headache (CGH) is a subgroup of headache, but there is limited information about cervical spine physical examination signs in children with CGH. Therefore, a cross-sectional study was designed to investigate cervical spine physical examination sig...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Budelmann K,von Piekartz H,Hall T

    更新日期:2013-10-01 00:00:00

  • Parent-proxy perception of overweight adolescents' health-related quality of life is different according to adolescent gender and age and parent gender.

    abstract:UNLABELLED:This study assessed health-related quality of life (HRQoL) reported by overweight adolescents and compared to their parent-proxy perception of HRQoL, according to adolescent gender, adolescent age, and parent gender. Patients and a total of 179 adolescents aged 10 to 18 years with excess weight were evaluate...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bianchini JA,da Silva DF,Nardo CC,Carolino ID,Hernandes F,Nardo N Jr

    更新日期:2013-10-01 00:00:00

  • Bronchial hyperreactivity and history of wheezing in children.

    abstract:UNLABELLED:The objective of this analysis was to determine the relationship between wheezing at different age groups in children and the prevalence of bronchial hyperreactivity at the age of 10. A population-based cross-sectional study was conducted in Leipzig and the region around Halle in Germany. Of 3105 10-year-old...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Wjst M,Dold S,Roell G,Reitmeir P,Fritzsch C,von Mutius E,Thiemann HH

    更新日期:1994-09-01 00:00:00

  • Changes in serum lipid and lipoprotein concentrations and compositions at birth and after 1 month of life in macrosomic infants of insulin-dependent diabetic mothers.

    abstract::The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Merzouk H,Madani S,Prost J,Loukidi B,Meghelli-Bouchenak M,Belleville J

    更新日期:1999-09-01 00:00:00