Implant-Related Complications and Mortality After Use of Short or Long Gamma Nail for Intertrochanteric and Subtrochanteric Fractures: A Prospective Study with Minimum 13-Year Follow-up.

Background: The purpose of this study was to evaluate the rates of implant-related complications and mortality after treatment of an intertrochanteric or subtrochanteric fracture with a short or long Gamma nail.

Methods: Between September 1998 and August 2003, 644 patients at 2 centers treated with a long or short Gamma nail for a hip fracture were prospectively enrolled in this study. These patients were followed until they reached 1 of the study end points, which included death, a reoperation directly related to the Gamma nail, or the end date of the study.

[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].

Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene.

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.

Background: Germline activating mutations of the thyrotropin receptor (TSHR) gene have been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in the pediatric population. Here we describe the long-term follow-up and evaluation of a patient with sporadic nonautoimmune primary hyperthyroidism who was found to have a de novo germline activating mutation of the TSHR gene.

Summary: The patient was an infant who presented at the age of 10 months in an unconscious state with exsiccation, wet skin, fever, and tachycardia.

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Combined pituitary hormone deficiency is characterized by the impaired production of pituitary hormones, commonly including growth hormone. The pathomechanism of the childhood-onset form of this disorder may involve germline mutations of genes encoding pituitary transcription factors, of which PROP1 gene mutations have been studied most extensively. However, controversy exists about the significance of PROP1 gene mutations, as both low and high frequencies have been reported in these patients.

[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].

Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity. The physiologic response and sensitivity to glucocorticoids may significantly differ among species, individuals, tissues and cell types. The variability of the effect of endogenous and exogenous glucocorticoids is largely determined by genetic components, of which the authors review the knowledge on the glucocorticoid receptor gene.

[Incomplete androgen insensitivity].

In the androgen insensitivity syndrome (AIS) the androgen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold.

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

Objective: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening.

[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone].

Unlabelled: Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone.

Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH). The simplest way to diagnose the disease is the measurement of 17-hydroxyprogesterone level in the serum.

Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary.

Unlabelled: The aim of this study was to assess the effectivity of the identification of patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of systematic neonatal screening and to estimate the incidence. Dried blood-spot samples of patients clinically suspected at any age to have CAH were collected between 1978 and 1998 throughout the whole country. 17-Hydroxyprogesterone (17-OHP) was measured by radioimmunoassay.

Mutational analysis of Hungarian patients with androgen insensitivity syndrome.

Objective: To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene.

Design: Clinical, hormonal and molecular genetic data of ten undervirilized genetic male patients living in Hungary were recorded.

Methods: PCR-based single strand conformation polymorphism (SSCP) analysis was used to study the whole coding region of the androgen receptor gene.