Abstract:
BACKGROUND:17beta hydroxysteroid dehydrogenase deficiency is a presumable rare cause for a severe virilization disorder in children with 46,XY karyotype due to a defect in the testicular testosterone biosynthesis from androstenedione. PATIENT:We report on a 14 year old child with 46,XY karyotype with a predominantly female phenotype. RESULTS:Hormonal analysis showed low values for androstenedione and testosterone before and after stimulation with human chorionic gonadotropin, however, the androstenedione/testosterone ratio was elevated. Molecular genetic analysis proved the diagnosis of 17beta-hydroxysteroid dehydrogenase deficiency due to a homozygous mutation (325+4 A-T) in the HSD17B3-gene, which leads to an aberrant splicing process. CONCLUSIONS:This case demonstrates that in addition to a meticulous steroid analysis a direct molecular genetic analysis can be helpful in the diagnosis of 17beta-hydroxysteroid dehydrogenase deficiency.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Twesten W,Johannisson R,Holterhus PM,Hiort Odoi
10.1055/s-2002-34015keywords:
subject
Has Abstractpub_date
2002-09-01 00:00:00pages
314-5issue
5eissn
0300-8630issn
1439-3824journal_volume
214pub_type
杂志文章abstract::The phagocytic and NBT reduction indices of 94 preterm and underweight babies, divided into 7 groups and two weight classes, were observed over a period of six weeks while they were observed over a period of six weeks while they were given four commercial baby foods (Humana 0, Meb, Multival, Pomil). In all groups the ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-03-01 00:00:00
abstract::According to the theories of Schachter concerning the external response of obese adults, which have been confirmed by Jung, Pudel and Nisbett, we tested these theories in obese adolescents. Eating behaviour of 16 grossly obese adolescents (8 males, 8 females, mean age 13.2 +/- 0.3 years, mean relative body weight 124 ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025512
更新日期:1990-05-01 00:00:00
abstract::A paralysis of the left vocal cord was seen by laryngoscopy in a 3-days-old boy with inspiratory stridor. A ductus aneurysm was established by angiocardiography, which was believed to be the cause of the vocal cord paralysis. Within 8 days after the angiocardiography the aneurysm became smaller and the stridor disappe...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026854
更新日期:1986-01-01 00:00:00
abstract::Growing teratoma is still an often unsolved problem especially in male with mixed malignant GCTs of the testis or the mediastinum. This specific situation with progressive tumor growth and simultaneous normalization of tumor markers during or after treatment of malignant GCTs with teratomatous elements is judged as a ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0029-1220738
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:Drug handling in paediatric intensive care units (PICU) is prone to medication errors. We aimed to identify type and prevalence of those errors and to assess preventative interventions. METHODS:Prospective intervention study investigating a 3-step intervention for preventing errors in drug handling in a 10-...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1364030
更新日期:2014-04-01 00:00:00
abstract::Oxygen saturation was determined non-invasively with the oxygenmet pulse wave oximeter 1471 and at the same time with the invasive reflectometric method. The determinations were carried out on 49 children (males = 24, females = 25) during 52 catherizations of the heart. Among these children aged between one week and 1...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034484
更新日期:1981-07-01 00:00:00
abstract::The present paper reports on a striking increase in undesirable drug induced reactions during simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics to children in intensive care. In a 30-month study period, reactions which had to be classified as drug-induced were seen in 24 out of a tot...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025555
更新日期:1990-11-01 00:00:00
abstract:UNLABELLED:In the prophylaxis of stress ulcers with antacids in young infants there are no recommendations of dosages that consider the physiologic maturation of gastric acid secretion. During the first six month of life the amount of gastric acid secretion in relation to body weight and body surface area increases exp...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2008-1043985
更新日期:1996-01-01 00:00:00
abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2007-1025318
更新日期:1992-01-01 00:00:00
abstract:UNLABELLED:The congenital syphilis is an infectious fetopathy which is able to affect the whole organism. In most cases symptoms are not obvious before week fourth to twelve of life. The infection of the mother is the precondition for the child's disease. The placental transfer takes place after the fifth to sixth mont...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2000-9612
更新日期:2000-11-01 00:00:00
abstract:BACKGROUND:Although considered of high prognostic impact, knowledge on the long-term outcome after neonatal parenchymatous brain lesions (PBL) is limited. PATIENTS:29 children with either unilateral (n = 19) or bilateral (n = 10) hemorrhagic/ischemic PBL. METHODS:The patients were reinvestigated at 9 9/12 +/- 3 4/12 ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-44900
更新日期:2004-07-01 00:00:00
abstract::We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, vertebral anomalies and anal atresia, which belong to the main ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract:BACKGROUND:One of the strongest predictive factors for therapy outcome in childhood acute lymphoblastic leukaemia (ALL), treated according to ALL-BFM protocols, is the response to initial prednisone treatment. Prednisone response is characterized by the peripheral leukaemic blast count. The threshold value for the char...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2001-16848
更新日期:2001-07-01 00:00:00
abstract::Aim of this study was to describe the course of perinatal factors in neonates with meconium aspiration syndrome (MAS) from 1990 to 2010 and to determine risk factors for a severe course of the disease.All neonates with MAS hospitalized in our level III neonatal intensive care unit from 1990 to 2010.Retrospective analy...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1361105
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Late effects become progressively more important for the evaluation of therapeutic success in paediatric oncology. Thus, in 1998, the Late Effects Surveillance System (LESS) started to register and assess multicentrally, prospectively and longitudinally late effects of treatment for the group of Ewing's, sof...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836503
更新日期:2005-05-01 00:00:00
abstract::A case of true hermaphroditism was described. The patient had an uterus, a fallopian tube, a testide on the left in the position of the ovary and an ovary on the right side. The chromosome picture corresponded to a 47, XXY/46, XX/46 XXY mosaic. The phenotype of the patient was male so the decision for male sex seemed ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-09-01 00:00:00
abstract:BACKGROUND:Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly present after birth. Later on follicular keratosis of the extremities and hyperkeratosis of palms and soles can be found. HISTORY AND CLINICAL FINDINGS:We report a child wit...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043783
更新日期:1999-05-01 00:00:00
abstract::A severe hyperammonemia is the characteristic finding in patients with enzyme defects in urea cycle and one of the main causes of the acute metabolic crisis dsuring the newborn period and infancy. A case report is given about two male infants, who died in the age of one and of seven months respectively. In the second ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035594
更新日期:1980-05-01 00:00:00
abstract:INTRODUCTION:Gender dysphoria (GD) in childhood and adolescence is characterized by an incongruence between sex at birth and gender identity, which usually increases during puberty. Gender dysphoric children and adolescents often suffer from psychological comorbidities such as depression. The purpose of our study is to...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/a-1066-4625
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Essential Thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by excessive production of platelets. The disorder is usually affecting adults and is rarely diagnosed in children. PATIENTS AND METHODS:In this retrospective study we describe 12 children aged 5-16 years in whom E...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-832356
更新日期:2004-11-01 00:00:00
abstract::We examined the effectiveness of a high-dose Immunglobulin therapy in 8 patients with idiopathic thrombocytopenic purpura (ITP) and measured the number, the morphology and the function of Thrombocytes as well as thrombocyte dependent clotting parameters. 0.5 g/kg/B.W. 7s-Immunglobulin (7s-IgG) per treatment led to nor...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034034
更新日期:1983-01-01 00:00:00
abstract:BACKGROUND:Most patients with terminal renal failure show arterial hypertension. In addition to casual blood pressure measurements in the clinic, home blood pressure measurement is recommended for these patients to control arterial blood pressure. PATIENTS:The study was performed in children with hemodialysis (HD; n =...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2001-11268
更新日期:2001-01-01 00:00:00
abstract::We report on a 13.2 years old boy who was treated for tall stature (expected target height of 204.8 +/- 5.4 cm) with high dose of testosterone. Therapy for height reduction was started with testosterone injections (250 mg Testoviron Depot i.m.) once a week. There occurred no side effects during 6 months of treatment. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043822
更新日期:1999-09-01 00:00:00
abstract::The article reports on a case of visceral leishmaniasis in a 3-year-old child of German residents in Rome who had passed two vacations on the isle of Ischia. Initial signs were intermittent temperatures, marked anorexia, hepatosplenomegaly and pancytopenia, with spontaneous recovery after three weeks. At that time, le...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract::Report of a case with congenital right sided intrapericardial diaphragmatic hernia. This type of a congenital diaphragmatic hernia occurs only rarely. Until 1984 30 cases are recorded in the available literature. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033888
更新日期:1986-07-01 00:00:00
abstract::Nasopharyngeal carcinoma (NPC) is a rare malignant tumor arising from epithelial cells of the nasopharynx. Its incidence is highest in Southeast Asia. Age distribution of NPC is bimodal, with one peak in young adolescents and another in patients 55-59 years of age. EBV appears to be the primary etiologic agent in the ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-0041-111180
更新日期:2016-04-01 00:00:00
abstract::Carcinomas of the plexus choroideus (PCC) represent the rare malignant variety of plexus choroideus papillomas and take a particularly unfavourable course. Tumors of the plexus choroideus account for about 2-4% of all primary brain tumors in children and 0.5% of those in adults. The PCC is more frequent in children th...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1046511
更新日期:1995-03-01 00:00:00
abstract::Lysozyme levels were determined in the mucosa of gut in 80 children with chronic inflammatory bowel disease, malabsorption and acrodermatitis enteropathica.l Levels of lysozyme in the mucosa of colon were found to be significantly higher in cases with chronic inflammatory bowel disease, whereas in children with malabs...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025570
更新日期:1984-01-01 00:00:00
abstract::The aims of trial NHL-BFM 90 for patients (pts) suffering from B-cell neoplasms are to prove whether: 1. Treatment for pts with complete resection can be reduced from 3 to 2 therapy courses; 2. Results for pts of stage III with large abdominal tumors can be improved by high dose (HD) chemotherapy; 3. Survival for pts ...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1055/s-2008-1046610
更新日期:1994-07-01 00:00:00
abstract::Possibilities of recognizing cerebral function disturbances in newborns as early as the acute phase of the condition, and of prognosticating permanent brain damage are described. Clinical findings such as lethargy or spasms in the second and third weeks of life following hypoxia indicate severe function disturbances w...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1034092
更新日期:1984-11-01 00:00:00