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












  • Outcomes following venoarterial extracorporeal membrane oxygenation in children with refractory cardiogenic disease.

    abstract::Retrospective analysis was performed at an affiliated university children's hospital with consecutive patients receiving a venoarterial extracorporeal membrane oxygenation (VA-ECMO) for refractory cardiogenic shock from July 2007 to May 2018. Fifty-six patients underwent VA-ECMO for refractory cardiogenic shock with t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Yang L,Ye L,Fan Y,He W,Zong Q,Zhao W,Lin R

    更新日期:2019-06-01 00:00:00

  • Predicting nasal high-flow therapy failure by pediatric respiratory rate-oxygenation index and pediatric respiratory rate-oxygenation index variation in children.

    abstract::The primary objective of this study was to evaluate whether pediatric respiratory rate-oxygenation index (p-ROXI) and variation in p-ROXI (p-ROXV) can serve as objective markers in children with high-flow nasal cannula (HFNC) failure. In this prospective, single-center observational study, all patients who received HF...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Yildizdas D,Yontem A,Iplik G,Horoz OO,Ekinci F

    更新日期:2020-10-19 00:00:00

  • Serum lysozyme activity in children with acute leukemia.

    abstract::Serum lysozyme activity was measured in samples from children with acute leukemia, malignant tumours, and in normal children. All children with acute lymphatic leukemia (ALL) had significantly reduced levels of lysozyme at diagnosis, and none of the children fell within the normal range. Children with ALL in complete ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bratlid D,Moe PJ

    更新日期:1978-04-20 00:00:00

  • Disseminated Mycobacterium avium infection in a child with decreased tumour necrosis factor production.

    abstract:UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Tuerlinckx D,Vermylen C,Brichard B,Ninane J,Cornu G

    更新日期:1997-03-01 00:00:00

  • Meal-induced thermogenesis in obese children with or without familial history of obesity.

    abstract::Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Maffeis C,Schutz Y,Zoccante L,Pinelli L

    更新日期:1993-02-01 00:00:00

  • Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.

    abstract:UNLABELLED:Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant lat...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: de Bruyn G,Casaer A,Devolder K,Van Acker G,Logghe H,Devriendt K,Cornette L

    更新日期:2012-03-01 00:00:00

  • Neuroleptic malignant syndrome in a 4-year-old girl associated with alimemazine.

    abstract:UNLABELLED:Neuroleptic malignant syndrome (NMS) is a rare but serious disorder caused by antipsychotic medication including phenothiazines. For sedative purposes, increasing doses of alimemazine were administered to a 4-year-old multiple handicapped girl, with cerebral damage of the basal ganglia. She developed extra-p...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: van Maldegem BT,Smit LM,Touw DJ,Gemke RJ

    更新日期:2002-05-01 00:00:00

  • Schistosomiasis in German children.

    abstract:UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bialek R,Knobloch J

    更新日期:2000-07-01 00:00:00

  • Gastric pneumatosis following cardiac surgery.

    abstract::Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. ...

    journal_title:European journal of pediatrics

    pub_type: 信件


    authors: Taylor DR,Tung JY,Baffa JM,Shaffer SE,Blecker U

    更新日期:2000-07-01 00:00:00

  • Successful remission induced by plasma exchange combined with leukocytapheresis against refractory systemic juvenile idiopathic arthritis.

    abstract::Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory cytokine-related disorder associated with overproduction of interleukin (IL)-6, IL-1β, and IL-18. Macrophage activation syndrome (MAS) is a critical and lethal complication of sJIA. Therefore, prompt induction of remission in the active phase of sJIA is ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Miyazono A,Abe J,Ogura M,Sato M,Fujimaru T,Kamei K,Ito S

    更新日期:2014-12-01 00:00:00

  • Association of increased numbers of peripheral blood double-negative T-lymphocytes with elevated serum IgG levels in severely handicapped children.

    abstract::CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Kawano Y,Noma T,Yoshizawa I,Maruki K,Yata J

    更新日期:1994-12-01 00:00:00

  • Long-term follow-up after stroke in childhood.

    abstract:UNLABELLED:Over the last few years, the importance of paediatric stroke has become more and more evident; however, there is still little known about long-term neurological and especially neuropsychological outcome of these children. By retrospective chart review, questionnaire and clinical examination with structured i...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Steinlin M,Roellin K,Schroth G

    更新日期:2004-04-01 00:00:00

  • A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.

    abstract::A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Versmold HT,Bremer HJ,Herzog V,Siegel G,Bassewitz DB,Irle U,Voss H,Lombeck I,Brauser B

    更新日期:1977-03-18 00:00:00

  • The use of ethanol in paediatric formulations in New Zealand.

    abstract:UNLABELLED:Children's right to access safe and effective medicines is recognised globally. Ethanol, used in paediatric liquid formulations as a solvent and preservative, is associated with safety concerns with respect to both acute ingestion and chronic exposure. In addition, families may have cultural or religious val...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Svirskis D,Toh M,Ram S

    更新日期:2013-07-01 00:00:00

  • Cortical malformations: a frequent cause of epilepsy in children.

    abstract:UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Lagae L

    更新日期:2000-08-01 00:00:00

  • The "price-tag" of foot health in infancy and early childhood: a cross sectional survey of UK parents.

    abstract::Children's feet are complex structures and strategies for supporting good foot health throughout childhood can be challenging. Greater awareness of the contemporary factors influencing decisions, such as footwear purchases, is needed to inform health narratives which are more closely aligned to parents' attitude and b...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Hodgson L,Hodges M,Williams AE,Nester CJ,Morrison SC

    更新日期:2021-01-15 00:00:00

  • Persistent pulmonary hypertension after lithium intoxication in the newborn.

    abstract::A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Filtenborg JA

    更新日期:1982-07-01 00:00:00

  • Haemostatic changes in tall girls treated with high doses of ethinyloestradiol.

    abstract::Haemostasis was studied in 8 tall girls during treatment with high doses of synthetic oestrogens for a period of 1 to 28 months. The girls received 0.5 mg ethinyloestradiol daily from day 1 to day 25 and 15 mg norethisteron daily from day 21 to day 25. All were without clinical signs of thromboembolism. Factors of the...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Muntean W,Borkenstein M

    更新日期:1980-09-01 00:00:00

  • Early onset sepsis calculator implementation is associated with reduced healthcare utilization and financial costs in late preterm and term newborns.

    abstract::The neonatal early onset sepsis (EOS) calculator is a novel tool for antibiotic stewardship in newborns, associated with a reduction of empiric antibiotic treatment for suspected EOS. We studied if implementation of the EOS calculator results in less healthcare utilization and lower financial costs of suspected EOS. F...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Achten NB,Visser DH,Tromp E,Groot W,van Goudoever JB,Plötz FB

    更新日期:2020-05-01 00:00:00

  • Severe hypothyroidism after contrast enema in premature infants.

    abstract::Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Lombard F,Dalla-Vale F,Veyrac C,Plan O,Cambonie G,Picaud JC

    更新日期:2009-04-01 00:00:00

  • Lamivudine and high-dose interferon alpha 2a combination treatment in naïve HBeAg-positive immunoactive chronic hepatitis B in children: an East Mediterranean center's experience.

    abstract::Chronic hepatitis B virus infection is among the most common causes of chronic liver disease in children. The aim of this study was to document prospectively our experiences related to lamivudine and high-dose interferon-alpha2a combination in naïve, e antigen positive, chronic hepatitis B virus infection treatment in...

    journal_title:European journal of pediatrics

    pub_type: 临床试验,杂志文章


    authors: Yilmaz A,Akcam M,Gelen T,Artan R

    更新日期:2007-03-01 00:00:00

  • Ventilatory response to CO2 in infants with alleged sleep apnoea.

    abstract::Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Folgering H,Boon J

    更新日期:1986-04-01 00:00:00

  • Congenital hyperekplexia: five sporadic cases.

    abstract:UNLABELLED:We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tac...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Rivera S,Villega F,de Saint-Martin A,Matis J,Escande B,Chaigne D,Astruc D

    更新日期:2006-02-01 00:00:00

  • Reproductive outcomes of women and men born very preterm and/or with a very low birth weight in 1983: a longitudinal cohort study in the Netherlands.

    abstract:UNLABELLED:The aims of this study were to analyze reproductive outcomes of women and men born very preterm (gestational age <32 weeks) or with a very low birth weight (<1500 g) in 1983 in the Netherlands and to compare their reproductive outcomes with the total population at a similar age of 28 years. Young adults who ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: van Gendt AW,van der Pal SM,Hermes W,Walther FJ,van der Pal-de Bruin KM,de Groot CJ

    更新日期:2015-06-01 00:00:00

  • Colloid infusion in the perinatal period and abnormal neurodevelopmental outcome in very low birth weight infants.

    abstract:UNLABELLED:In very low birth weight (VLBW) infants, colloid infusion is associated with impaired perinatal lung function and increased oxygen dependency duration. The aim of this study was to determine whether perinatal colloid infusion was associated with abnormal neurodevelopmental outcome. All perinatal fluid input ...

    journal_title:European journal of pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Greenough A,Cheeseman P,Kavvadia V,Dimitriou G,Morton M

    更新日期:2002-06-01 00:00:00

  • The role of IL-6 572 C/G, 190 C/T, and 174 G/C gene polymorphisms in children's obesity.

    abstract:UNLABELLED:The aim of this study was to establish the correlations between the polymorphisms of the genes interleukin (IL)-6 572, 190, and 174 in obese children. We assessed 222 hospitalized children divided into two groups: group I (control) included 110 patients with normal nutritional status, and group II consisted ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Oana MC,Claudia B,Carmen D,Maria PA,Septimiu V,Claudiu M

    更新日期:2014-10-01 00:00:00

  • Presumptive varicella vaccination is warranted in Greek adolescents lacking a history of disease or household exposure.

    abstract::Current practice favors serotesting adolescents with a negative history of chickenpox rather than offering presumptive vaccination. Recent epidemiologic data from Greece indicate that a high proportion of adolescents (21.5%) are susceptible to chickenpox. We assessed the reliability of negative varicella history in re...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Katsafadou A,Kallergi K,Ferentinos G,Goulioti T,Foustoukou M,Papaevangelou V

    更新日期:2009-01-01 00:00:00

  • Pseudohyperkalaemia in Kawasaki disease.

    abstract::Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Shimizu T,Yamashiro Y,Yabuta K

    更新日期:1992-07-01 00:00:00

  • Influence of blood pressure level and age on within-visit blood pressure variability in children and adolescents.

    abstract::Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Veloudi P,Blizzard CL,Srikanth VK,Schultz MG,Sharman JE

    更新日期:2018-02-01 00:00:00

  • Clinical characteristics and therapeutic outcomes of pulmonary arterial hypertension secondary to congenital portosystemic shunts.

    abstract::The aim of this retrospective study was to investigate the clinical characteristics and therapeutic outcomes of pulmonary arterial hypertension (PAH) secondary to congenital portosystemic shunts (CPSS). Thirty-three pediatric patients diagnosed in our institution with CPSS between 2012 and 2019 were enrolled in this s...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Wu J,Lu Y,Zhao W,Shen J,Li F,Zhang H,Chen Q,Fu L

    更新日期:2020-10-03 00:00:00