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Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Vyšetření sexuálního vývoje je součástí preventivních prohlídek (PP) a nemělo by být pouze formální. Kromě vrozených poruch, multidisciplinárně řešených v prvních letech života, také záchyt atypické manifestace sekundárních pohlavních znaků u prepubertálních jedinců bývá bezproblémový, protože vyvolává obavy rodičů a ti si vyšetření vyžádají. Jiná situace je v pubertě. Poruchy dospívání v čase a kvalitě nejsou příliš časté (asi 12 %), léčebné možnosti existují, je však nutné uplatnit je včas. Dvouletý interval PP může být dlouhý. PP v 7/ 9/11 letech musí brát v úvahu růstové tempo, případně revizi porodních parametrů, PP ve 13/15 letech familiární typ dospívání a genetické pozadí jedince. Klinická výtěžnost vyšetření sexuální zralosti zahrnuje řadu aspektů - dg a léčbu příčiny poruchy, dosažení geneticky naprogramované výšky, eliminaci psychického stresu, oddálení sexuálního života, případně rizika časné gravidity. Vyšetření intimních partií, zvláště když je nečekané, vyžaduje citlivý přístup se srozumitelným vysvětlením smyslu prohlídky, dobrovolnou spolupráci pacienta, případně náhradní řešení (např. sebehodnocení s použitím orchidometru, fotografií Tannerových stadií vývoje). Vyvarujeme se tak nejen individuálně odstupňovaných traumatických prožitků, ale můžeme i výchovně přispět k budoucímu (nejen sexuálnímu) chování dítěte. [ABSTRACT FROM AUTHOR]

New findings regarding the local synthesis of calcitriol, its binding on nuclear receptors and its regional tissue effects have led to discovery of its endocrine microsystems. Their application in growing organisms and their lifelong functionality provide possible preventive and treatment modalities in multiple ailments, mostly by natural and minimally expensive means.

Background: The aim of the study was to evaluate prostate transrectal ultrasonography findings in men with congenital hypogonadism treated by long term testosterone replacement therapy., Methods: We have gradually included 31 men with congenital hypogonadism in period of 2001-2011. The average follow-up was 7.3 years (2 months - 10.8 years). We have used Sustanon® 250 i.m. every 3 weeks or Nebido® i.m. every 3 months for continual testosterone replacement therapy. We performed to all patients the transrectal ultrasonography of prostate and seminal vesicles by biplanar rectal probe every 6 months., Results: During the transrectal ultrasonography we observed in 22 (71.0 %) patients changes in prostatic tissue. In case of 12 patients were diagnosed asymptomatic prostatic cysts, in 9 patients prostatolithiasis and in 5 patients changes in echogenity of prostatic tissue. In 2 patients was found simultaneous occurrence of prostatic cyst and prostolithiasis, in further 2 patients simultaneous occurrence of hyperechogenic prostatic lesion and prostatolithiasis. The above described findings were diagnosed in 5 patients in the treatment lasting from 3 to 5 years, for the other 17 men with hormone replacement therapy longer than 5 years., Conclusions: The study presents long term results of complex treatment in patients with disorders of sexual development, onset and progress of puberty. The long term treatment of these patients in interdisciplinary cooperation of endocrinologist and andrologist may significantly contribute to clarify an impact of testosterone replacement therapy on prostate development.

Institute of Endocrinology became a pediatric center for growth hormone treatment in 1993, after the existing cohort of children treated in the Department of Pediatrics of the Postgraduate Medical School (IPVZ, FTN) had been transferred here. In 2004 it became also a center for adults. At the end of 2006 the total number of those, who underwent the treatment amounted to 408 patients. Their indications come out of internationally observed clinical and laboratory criteria while the treatment itself is regularly controlled in the 3-months periods. It is also a matter of standardized evidence in international protocols. Our insurance covers that financially demanding treatment completely. As the best criterion for the growth hormone efficacy in children we follow the growth velocity, the benefit is however perceived in other clinical and laboratory indices as well. In adults the success criteria are metabolic parameters, the increase of non-fatty body mass, increase of bone density and improvement of subjective quality of life. Our experience in growth hormone treatment is propitious, with 80% of children evaluated as successful. No adverse events has been ever registered; the before time discontinuation of treatment has been decided only four times. Intermittent summer camps, weekend activities and social meetings of patients contribute to the good compliance and collaboration.

Objective: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals., Design and Methods: Genomic analysis was carried out on 74 children and adults with MPHD from the Czech Republic (including four sibling pairs). Phenotypic data were collected from medical records and referring physicians., Results: One patient carried a heterozygous mutation of POU1F1 (71C > T), and 18 patients (including three sibling pairs) had a PROP1 mutation (genotypes 150delA/301delGA/9/, 301delGA/301-delGA/8/, or 301delGA/349T > A/1/). A detailed longitudinal phenotypic analysis was performed for patients with PROP1 mutations (n = 17). The mean ( +/-s.d.) birth length SDS of these patients (0.12 +/- 0.76) was lower than expected based on their mean ( +/-s.d.) birth weight SDS (0.63 +/- 1.27; P = 0.01). Parental heights were normal. The patients' mean ( +/-s.d.) height SDS declined to -1.5 +/- 0.9, -3.6 +/- 1.3 and -4.1 +/- 1.2 at 1.5, 3 and 5 years of age, respectively. GH therapy, initiated at 6.8 +/- 3.2 years of age (mean dose: 0.022 mg/kg per day), led to substantial growth acceleration in all patients. Mean adult height (n = 7) was normal when adjusted for mid-parental height. ACTH deficiency developed in two out of seven young adult patients., Conclusions: PROP1 defects are a prevalent cause of MPHD. We suggest that testing for PROP1 mutations in patients with MPHD might become standard practice in order to predict risk of additional pituitary hormone deficiencies.

Background: Girls and adolescents with Turner syndrome (TS) usually receive intensive medical care in a multidisciplinary team, coordinated by paediatric endocrinologist. Majority of them are discharged from specialist clinics following the induction of puberty and attainment of final height. Patients with Turner syndrome have a reduced life expectancy, they are known to have multi-system impairments in addition to the short stature and to the absence of sexual development. Aim of this study is to propos a continuous follow-up by multidisciplinary team of physicians starting in childhood and following the discharge from the paediatric care., Methods and Results: This paper highlights the medical and psychosocial problems associated with Turner syndrome in childhood, adolescence and in adulthood. Analysis of these problems served as a background to management strategy., Conclusions: Women with Turner syndrome are at risk of number of medical problems. Quality of their life and the life expectancy can be improved with increasing awareness to comorbities associated with Turner syndrome. Assisted reproduction technologies has recently offered a chance for pregnancy and delivery of a healthy child also to women with Turner syndrome. Therefore, long-term follow-up by multidisciplinary team of physicians knowledgeable about these medical problems is necessary. Introduction of a centralised system of systematic multidisciplinary approach to patients with Turner syndrome from childhood and adolescence to adulthood seems to be very important.

Modern era brought new diagnostic and therapeutic methods to endocrinology and changed the approach to many diseases and developmental disorders. Explosion of new findings brought about the possibility of examinations on subcellular level. Possibility to study structure and function of various genes is not any more the futurology. However, still in medicine romain a roas which are considered as less important. It is usually assumed that questions of fertility will be dealt by the specialist for adults. We suppose that the given problems should be well advised by an interdisciplinary co-operating team in the paediatric patients already. However, it should be recognised that some reproduction disorders have their origin in the early age. The aim of this paper is to give an overview on endocrine disorders in relation to reproduction impairments and to outline possibilities of co-operation between different specialist treating patients from childhood trough adulthood.

The presented paper is based on laws governing growth and development of humans, it reminds of various aspects of the comprehensive evaluation of the developmental stage of the human organism and makes the reader familiar with some factors of the endogenous and exogenous environment which influence growth and development. The author presents also an account of recent findings on the function and mutual harmony of neurohumoral regulations of intrauterine and postnatal growth, on the transmission of information and the response of target tissues.

A laboratory test enabling to reveal and confirm the suspicion on the insensitivity to androgens was evaluated. The test consisted of determination of the decline in plasma level of sex hormone binding globulin (SHBG) on the 7th day after administration of a single dose of testosterone preparation (Testoviron Depot 100, Schering, 2 mg/kg body weight). The upper limit of percentual SHBG decline, below which the patients can be considered normal responders (i.e. subjects without insensitivity to androgens), obtained from the follow up of the time course of SHBG changes after Testoviron application to 6 healthy men, was established as 83.6%. The level of percentual SHBG decline, above which the patients were considered non-responders with impaired peripheral sensitivity to androgens was assessed from the imprecision of immunoradiometric determination of SHBG and amounted 91.9%. The test was used and evaluated in 26 patients with 46 XY karyotype, representing various cases of intersex, gonadal dysgenesis and male hypogonadism, out of which four subjects with clinically confirmed impaired peripheral sensitivity to androgens were discovered. The test however, appeared not to be reliable in cases of very low basal SHBG levels, i.e. below 15 nmol/l.

A simple laboratory test for disclosure of peripheral androgen insensitivity has been suggested. The test is based on determination of sex hormone-binding globulin (SHBG) following single administration of testosterone preparation (Testoviron Depot, Schering, 2 mg/kg of body weight). The kinetics of SHBG response to exogenous testosterone was investigated first in a group of 5 healthy male volunteers. The highest highly significant decrease of SHBG level occurred 7th day after drug administration. The method of choice for SHBG determination is an immunoradiometric assay (IRMA). The test was used for a group of 15 children and young people suspected for androgen sensitivity disorder. In all cases, besides SHBG on days 0 and 7 testosterone, dihydrotestosterone and LH were measured, too. In three instances the response was negative: in the case of male Turner syndrome, with very low basal SHBG levels, in one case of confirmed diagnosis of testicular feminization and in the third case of suspected testicular feminization, which has not yet been concluded. In all other patients a significant decrease (in average to 62.8% of the basal level) was in agreement with clinical findings.

In the submitted paper the authors give an account of their experience with the treatment of a patient with severe scrotal hypoplasia which is a very rare inborn defect. In a group of 1403 boys operated in the last ten years on account of cryptorchism this anomaly recorded only once, i.e. in 0.071%. The authors recommend a two-stage operation. In the first stage they use a V-Y plastic operation to create a neoscrotum. In the second stage orchidopexy is performed. Collaboration with a child endocrinologist is important. The aim of endocrinological examination is not only evidence of the presence and function of the gonads by a hormonal test, but in case of associated anomalies, also the assessment of genetic, genital and gonadal sex.

The authors present a group of 20 girls and young women with various clinical symptoms of hyperandrogenism. The common finding in all these patients is an elevated excretion of desoxy-fraction of 17-oxosteroids, in particular androsterone in urine. The authors describe in detail the case-history of a girl with pubarché praecox and premature closure of the epiphyseal crevices and a young woman with polycystic ovary syndrome. The authors supplement the reflections on the aetiology of hyperandrogenism by suggestion of an algorithm examination and therapeutic procedure when excessive androgen production in the female organism is confirmed.