[Psychiatric disorders in adults with Prader-Willi syndrome: a systematic literature review]. / Psychiatrische comorbiditeit bij volwassenen met prader-willisyndroom: systematisch literatuuroverzicht.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic syndrome characterized by dysmorphic features and endocrine, cognitive and psychiatric problems. Psychiatric problems interfere with the transition from pediatric to adult care. Psychiatric expertise is needed to facilitate this transition. AIM: To provide a literature review on the prevalence and clinical presentation of psychiatric disorders in adults with PWS. METHOD: A systematic literature review following the PRISMA-guidelines. RESULTS: Thirty-three articles were included. Most adults with PWS had a specific behavioral profile with disruptive, autistic and compulsive characteristics. Psychotic symptoms occured in one third of adults with PWS, mostly in patients with maternal uniparental disomy. Mood disorders were present in 10 to 20% of adults with PWS and often accompanied by psychotic features. Studies were limited and heterogeneous in samples and methods. CONCLUSION: There is a broad spectrum of psychiatric symptoms in adults with PWS. The clinical presentation does not fully fit within the DSM categories and shows differences between genetic subgroups. Longitudinal studies assessing the psychiatric symptoms with standardized methods are needed to improve practices on diagnosing, prevention, and treatment.

Body fat content, fat distribution and adipocytokine production and their correlation with fertility markers in young adult men and women conceived by intracytoplasmic sperm injection (ICSI).

OBJECTIVE: Differences in body fat content during childhood and adolescence have been described in offspring conceived by in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI). However, data on body fat and its distribution as well as on adipocytokine production in young adults conceived by ICSI are nonexistent. We investigated if young adult men and women conceived by ICSI have a normal body fat patterning and adipocytokine production. DESIGN: Cohort study. PATIENTS: One hundred twenty-seven young adults conceived by ICSI and 138 peers born after spontaneous conception. MEASUREMENTS: Anthropometric parameters (skinfold thickness, hip and waist circumferences), dual X-ray absorptiometry (whole body and regional) measurements and adipocytokine levels (leptin and adiponectin) were analysed in relation to fertility markers (serum anti-Mullerian hormone (AMH) and inhibin B). RESULTS: While at age 18 years, a normal body fat distribution and normal leptin and adiponectin production was found in both male and female ICSI offspring, young men conceived by ICSI had a higher peripheral fat deposition in comparison with spontaneously conceived peers. No correlation between AMH and inhibin B with leptin or adiponectin was observed. CONCLUSION: While men conceived by ICSI, but not women, had a higher peripheral fat deposition, body fat distribution as well as mean levels of adipocytokines were not affected by the mode of conception.

Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.

OBJECTIVE: Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized aetiology in children with central diabetes insipidus (CDI); clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analysing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune infundibuloneurohypophysitis, during the last 15 years in four Belgian university hospitals. DESIGN AND PATIENTS: The medical files of nine CDI patients with a ST at initial presentation and no signs of Langerhans cell histiocytosis or germinoma at presentation and/or during follow-up of more than 1.5 years were reviewed. RESULTS: Age at presentation ranged from 3 to 14 years. Two patients had a positive family history of autoimmunity. Three children presented with associated growth failure, two with nausea and one with long-standing headache. Median maximal diameter of the stalk was 4.6 mm (2.7-10 mm). Four patients had extra-pituitary brain anomalies, such as cysts. One patient had central hypothyroidism, and another had a partial growth hormone deficiency at diagnosis. Within a mean follow-up of 5.4 (1.5-15) years, stalk thickening remained unchanged in two patients, regressed in one and normalized in six children. CDI remained in all, while additional pituitary hormone deficiencies developed in only one patient. CONCLUSIONS: In this series of children INH with CDI as initial presentation, CDI was permanent and infrequently associated with anterior pituitary hormone deficiencies, despite a frequent association with nonstalk cerebral lesions.

Beyond the Drinking Water Directive: The use of reporter gene assays as an added tool for effect-based monitoring of polycyclic aromatic hydrocarbons and polychlorinated biphenyls in drinking water sources.

Polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs) are legacy organic micropollutants (OMPs) that are sporadically detected in drinking water (DW) sources. The European Drinking Water Directive requires EU member states to monitor 5 PAHs in DW and its sources. The Dutch national regulations require 6 additional PAHs to be monitored and 7 polychlorinated biphenyls (PCBs). These indicator compounds act as representatives for large compound classes. PCBs alone comprise 209 congeners, it is evident that conventional chemical target analysis (GC-tQ-MS) alone is not sufficient to monitor these entire compound classes. This study investigated the application of reporter gene assays as effect-based methods (EBMs) to monitor PAHs and PCBs in DW sources. Herein, it was assessed what added value the bioassays can bring compared to the current approach of chemical target analysis for PCBs and PAHs. Regulated and non-regulated PAHs and PCBs were tested in four bioassays to determine the relative potency factors (RPFs) for these compounds. Non-regulated congeners were found to be active in the PAH-CALUX and anti-AR CALUX. An assessment of surface water (SW) spiked with standard mixtures containing PAHs and PCBs confirmed the predictable behavior of the PAH-CALUX. Moreover, the bioassay was able to detect AhR-mediated activity caused by non-regulated PAHs and PCBs, whereas this would have been missed by conventional chemical target analysis. Last, a field study was conducted in Dutch DW sources at six sampling moments. The PAH-CALUX detected AhR-mediated activity at all sampling moments and an ecological effect-based trigger (EBT) value was exceeded on multiple accounts. Combined application of GC-tQ-MS and the PAH-CALUX ensures compliancy with monitoring legislation and provides additional insights into potential hazards to humans and the environment.

[Recommendations for vitamin D supplementation in infants and young children]. / Supplémentation en vitamine D du nourrisson et du jeune enfant.

Vitamin D deficiency occurs rather commonly among healthy pregnant women, newborns and young children, especially in certain risk groups. Since vitamin D plays a role in calcium and phosphor metabolism essential for bone health and in the physiopathology of some autoimmune diseases it seems important to provide recommendations for prevention of vitamin D deficiency. Risk factors include maternal vitamin D deficiency, low intake of fortified food, eg. breastfeeding, low compliance of supplementation, dark skin, inadequate sun exposure, premature birth, overweight, living at high latitude. The aim of this paper is to summarize available data of vitamin D sources, known situations in which deficiency is common and published guidelines on vitamin D supplementation, and translate this information in recommendations for prevention of vitamin D deficiency in healthy paediatric population in Flanders. Infants should receive an oral supplementation of 400 IU/day of vitamin D from birth and this should be continued till the age of 6 years. In cases of dark skin the dose should be 600 IU/day. An healthy life style with outdoor activities and associated sun exposure and intake of fortified nutrition should be advised. The implementation should be promoted by all healthcare professionals working with young children.

The contribution of PFAS to thyroid hormone-displacing activity in Dutch waters: A comparison between two in vitro bioassays with chemical analysis.

Per- and polyfluoroalkyl substances (PFAS) are a group of xenobiotics that are widely distributed throughout the aquatic environment. Many PFAS are possible thyroid hormone (TH) system disrupting compounds, because they have the capacity to -amongst other- inhibit the TH thyroxine (T4) from binding to its transport protein transthyretin (TTR). This study investigated the occurrence of TH-displacing activity in the Dutch water cycle, and more specifically, the contribution of PFAS to this effect. Over one year of monitoring data of 29 PFAS (linear and branched) showed the continuous presence of PFAS in drinking waters and their surface water sources. Secondly, the FITC-T4 and TTR-TRß-CALUX bioassays were mutually compared using positive (HPLC-grade water spiked with PFOA) and negative control samples (HPLC-grade water), as well as relative potency factors (RPFs) of up to 20 PFAS congeners. Both assays were found to be suitable for measuring TH-displacing activity in water samples. As a third aim, a field study was performed in the Dutch water cycle that was comprised of samples from drinking water, surface water, PFAS contaminated sites, and 2 wastewater treatment plants. All samples were analyzed with 1. chemical analysis for 29 PFAS, 2. the FITC-T4 bioassay, and 3. the TTR-TRß-CALUX bioassay. The bioassays mutually showed good correlation (R2 0.85). Bioanalytical equivalent concentrations (BEQ) based on chemically-determined concentrations and RPFs (BEQchem) revealed that analyzed PFAS only explained ≤4.1 % of their activity in water extracts measured by both bioassays (BEQbio). This indicated that as yet unknown compounds contribute to the majority of the measured TH-displacing activity. Moreover, water treatment processes (e.g. DW production from SW) showed a larger contribution of target PFAS to the BEQbio. This could be a first lead to identify unknown compounds that contribute to this activity, and as such, enable the assessment of possible risks associated by the occurrence of TH-displacing activity in water.

Pubertal development in ICSI children.

BACKGROUND: To date, information on the pubertal development of adolescents born after ICSI is scarce, since the very first cohort is only now reaching young adulthood. In this study, pubertal development at the age of 14 was characterized in a longitudinally followed cohort of ICSI-conceived teenagers and compared with that of a spontaneously conceived (SC) control group. METHODS: Pubertal development was assessed by Tanner staging (breast, genital and pubic hair development) and age at menarche in 217 singleton ICSI-conceived children (116 boys, 101 girls) and 223 SC peers (115 boys, 108 girls). ICSI teenagers were part of a previously published cohort followed since birth; controls were a cross-sectional sample recruited from schools. Differences in pubertal development between ICSI and SC children were analyzed with logistic regression of current status data. RESULTS: Mean age at menarche was similar in ICSI and SC girls (13.1 ± 1.2 versus 13.1 ± 1.4 years; P = 0.8). Breast developmental at the age of 14 years was less advanced in ICSI females compared with SC females, even after adjustment for demographic (age, BMI), genetic (maternal age at menarche), social (maternal educational level) and early life factors (birthweight, gestational age and maternal parity) [odds ratio (OR) 0.5; 95% confidence interval (CI) 0.3-0.8]. After adjustment, genital development in the 14-year-old boys was comparable in the ICSI and SC groups (OR 1.1; 95% CI 0.7-1.8), pubic hair development was comparable in the ICSI and SC groups, for both males (OR 0.9; 95% CI 0.7-1.6) and females (OR 0.7; 95% CI 0.4-1.3). CONCLUSIONS: We found that pubertal development, characterized by menarche, genital development in males and pubic hair development in males and females, was comparable in the ICSI and SC groups. Breast developmental was less advanced in ICSI females compared with SC peers, even after adjustment for known potential confounders. In order to confirm that progression through subsequent stages of pubertal development occurs on a timely basis in ICSI teenagers, long-term follow-up studies up to adulthood are required.

Failure of a combined clinical- and hormonal-based strategy to detect early spermatogenesis and retrieve spermatogonial stem cells in 47,XXY boys by single testicular biopsy.

BACKGROUND: Although germ cells in boys with Klinefelter syndrome (KS) are reduced in number as early as infancy, a severe germ cell loss occurs during mid-puberty. Therefore, we wanted to detect spermatogenesis at an early stage and investigate the strategy of preserving spermatozoa and/or testicular spermatogonial stem cells in adolescents with KS when signs of deteriorating spermatogenesis are observed. METHODS: Tanner staging, testicular size, serum inhibin B and spermaturia were assessed every 4 months before the attempt to procure gametogenic cells in seven non-mosaic 47,XXY adolescents, aged between 10 and 16 years. RESULTS: Despite an increasing testis volume in the youngest and a Tanner staging of more than three in the oldest patients, no spermaturia was observed. In two patients serum inhibin B increased gradually, while in all others a rather rapid but variable decline was observed at different ages. No spermatozoa were observed after electroejaculation. No spermatocytes or spermatids were found at microscopic examination of single biopsies, while spermatogonia were identified in four subjects, three of whom had measurable serum inhibin B. Massive fibrosis and hyalinization were observed in all biopsies. CONCLUSION: No spermatogenesis was documented in non-mosaic 47,XXY adolescents either by spermaturia, electroejaculation or testicular biopsy. Neither clinical nor hormonal parameters were of value in determining the timing for optimal spermatogonial stem cell retrieval. More data are needed to elucidate the potential role of testicular tissue cryopreservation in adolescents with KS. Therefore, at present, the cryopreservation of testes tissue for clinical reasons should not be recommended.

Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?

BACKGROUND: Although early development of testes appears normal in boys with Klinefelter syndrome (KS), spermatogonial stem cell (SSC) depletion occurs in mid puberty, leading to infertility. Cryopreservation of SSCs prior to stem cell loss is an option that is currently offered to boys who have to undergo gonadotoxic treatments. This study aimed to explore the possibility of preserving SSCs in pubertal KS adolescents by testicular tissue banking. METHODS: A retrospective study was conducted in seven non-mosaic 47,XXY adolescents, aged 13-16 years, who were invited for an experimental testicular tissue banking programme during their follow-up at the Paediatric Endocrinology Department of the UZ Brussel between 2009 and 2011. Paraffin-embedded testicular tissue was sectioned and stained with haematoxylin-eosin, and immunostainings were performed for Mage-A4, anti-Mullerian hormone, Inhibin α and steroidogenic acute regulatory protein. The presence of spermatogenesis and/or spermatogonia was evaluated. RESULTS: Massive fibrosis and hyalinization was observed in all but one KS patients. Although spermatogonia were seen in five patients, spermatogonia were only present in tubules showing normal architecture in the youngest patient who also had normal follicle-stimulating hormone and inhibin B concentrations. CONCLUSIONS: Testicular tissue cryopreservation in KS adolescents should be recommended as soon as possible, probably before hormonal changes of failing Sertoli cell function are detected.

Blood pressure in ICSI-conceived adolescents.

STUDY QUESTION: Do young adolescents conceived by ICSI display a higher blood pressure than spontaneously conceived (SC) adolescents? SUMMARY ANSWER: In our study, 14-year-old male and female ICSI teenagers were not found to have increased blood pressure at rest. WHAT IS KNOWN AND WHAT THIS PAPER ADDS: Only limited data are available regarding the cardiovascular risk of children born after assisted conception and up till now, no data on the cardiovascular health in pubertal children conceived by ICSI have been published. In this study, resting blood pressure and blood pressure response to a psychological stressor were measured in a cohort of 14-year-old teenagers conceived by ICSI and compared the results with those of a group of SC peers. DESIGN: In this cross-sectional study, resting blood pressure measurements were available from 217 singleton ICSI children (116 boys, 101 girls) and 223 singleton control children born after spontaneous conception (115 boys, 108 girls). Continuous blood pressure measurements, performed during a psychological stress test, were available for only 67 ICSI and 38 SC children. PARTICIPANTS AND SETTING: The study group comprised adolescents conceived by ICSI predominantly because of male factor infertility and they were part of a previously published cohort followed since birth; controls were a cross-sectional sample of peers born to fertile parents and recruited from comparable schools as those attended by the ICSI teenagers. Response rates were 56% (tested/reached) in the ICSI group and 50% (agreed/eligible) in the SC group, but information regarding health could be obtained in 63 and 72% of the ICSI and SC children, respectively. MAIN RESULTS AND THE ROLE OF CHANCE: ICSI girls had a comparable resting systolic (109 ± 9 mmHg) and diastolic (64 ± 6 mmHg) blood pressure in comparison with girls in the SC group (111 ± 9 mmHg, P = 0.2 and 66 ± 7 mmHg, P = 0.05), even after adjustment for age and height. After adjustment for current body characteristics, early life and parental background factors, systolic and diastolic blood pressure remained comparable in both groups. In ICSI boys, a slightly lower systolic (113 ± 10 mmHg), but comparable diastolic (64 ± 6 mmHg) resting blood pressure was found in comparison with the SC group (116 ± 9 mmHg; P = 0.04 and 65 ± 5 mmHg; P = 0.1). After adjustment for height and age, systolic and diastolic blood pressure were comparable in both groups (P = 0.7 and P = 0.6). After correction for current body characteristics, early life and parental factors, ICSI and SC boys still had comparable systolic (difference in ICSI versus SC: -1.1 mmHg; 95% CI: -3.8-1.6; P = 0.4) and diastolic (difference in ICSI versus SC: -1.2 mmHg; 95% CI: -3.2-0.7; P = 0.2) blood pressure measurements. In the small subsample of girls and boys with continuous blood pressure readings, the systolic and diastolic blood pressure response to the stress test was not significantly different between the ICSI and SC groups even after taking into account the baseline values. BIAS, CONFOUNDING AND OTHER REASONS FOR CAUTION: Despite the rather low response rate in the ICSI group and the fact that no information on current health status could be obtained from more than a quarter of the eligible comparison group, the non-participating analysis in the ICSI as well in the SC group did not reveal differences between participating and non-participating children regarding clinical characteristics. The negative results for the sub-analysis on blood pressure response to stress should be interpreted with caution, because these data were available for only a small number of children, and the analysis may be underpowered. This result can only rule out a large effect on blood pressure responsiveness to a psychological stressor. Although our sample size appears to be appropriate, our results need confirmation by others and in larger cohorts when more data become available. GENERALIZABILITY TO OTHER POPULATIONS: Our results are the first described ever in ICSI offspring, born to parents suffering from predominantly male factor infertility. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by research grants from Fonds voor Wetenschappelijk Onderzoek Vlaanderen, Onderzoeksraad Vrije Universiteit Brussel and Wetenschappelijk Fonds Willy Gepts. Unconditional grants from MSD Belgium, Merck International, IBSA Institut Biochimique and Ferring International Center are kindly acknowledged.

Everything in excess is opposed to nature, even vitamin D: a case report.

SUMMARY: Vitamin D intoxication in children is rare but its incidence is increasing as vitamin D is supplemented more often and in higher doses. Children with cystic fibrosis (CF) are at risk for vitamin D intoxication due to incorrect compounded preparations of liposoluble vitamins. Here, we report a severe vitamin D intoxication in a 4-year-old girl with CF, due to an error in the compounded vitamin A, D, E, and K preparation, presenting clinically with weight loss, constipation, polydipsia, polyuria, and nycturia. The administered compounded preparation contained 10 000-fold the prescribed vitamin D dose. The patient was treated with hyperhydration, loop diuretics, and bisphosphonates. Serum calcium levels normalized after 4 days but serum 25-hydroxyvitamin D levels remained elevated even up to 2 months after treatment. LEARNING POINTS: Vitamin D intoxication should be ruled out when patients with cystic fibrosis (CF) present with acute polyuria, constipation, and weight loss. Prompt treatment is necessary to avert life-threatening complications. Regularly measuring serum calcium and 25-hydroxyvitamin D concentrations in children with CF receiving vitamin A, D, E, and K supplements is important during their follow-up.

Salivary testosterone concentrations in pubertal ICSI boys compared with spontaneously conceived boys.

BACKGROUND To date, no data exist about Leydig cell function of pubertal boys born after ICSI. To evaluate a potential risk of gonadal dysfunction in children born from fathers with compromised fertility, testicular function was assessed by the measurement of salivary testosterone. METHODS Morning salivary testosterone levels at the age of 14 years were compared between 58 ICSI teenagers who are part of the oldest ICSI cohort, and 62 boys born after spontaneous conception (SC). RESULTS Salivary testosterone levels were comparable between ICSI (113 ± 42 pg/ml) and SC (123 ± 56 pg/ml) teenagers at the age of 14 years. In the ICSI group, testosterone levels in boys from fathers with severe oligozoospermia were not different from concentrations in boys from fathers without severe oligozoospermia (115.5 ± 43 and 109 ± 41 pg/ml, respectively). CONCLUSIONS At the age of 14 years, pubertal ICSI boys show testosterone levels comparable to their peers born after SC. ICSI adolescents fathered from men with severely compromised spermatogenesis show testosterone levels comparable to those from fathers with normal spermatogenesis. This notwithstanding, further follow-up of ICSI teenagers into adulthood is mandatory to confirm a normal gonadal function.

Serum inhibin B concentrations in pubertal boys conceived by ICSI: first results.

BACKGROUND: Currently, no published data exist about the gonadal function of children born after ICSI. To evaluate potential risk of testicular seminal dysfunction in boys born to fathers with compromised spermatogenesis, serum inhibin B (as a marker for spermatogenesis) was assessed. METHODS: We recruited 50 pubertal adolescents from the oldest cohort of infants born following ICSI. Cross-sectional serum inhibin B levels of all 50 ICSI adolescents, and longitudinal serum inhibin B (assessed at 8 and 14 years) in 25 boys, are reported. RESULTS: A statistically significant increase in inhibin B levels was observed between 8 (mean 69 ng/l, SD ± 35) and 14 years (mean 145 ng/l, SD ± 41; P < 0.001). In three quarters of the ICSI boys an increase in serum inhibin B levels of at least 30% between 8 and 14 years was observed. In all but 4 of the 14-year-old ICSI boys serum inhibin B was normal. Serum inhibin B levels in boys from fathers with severe oligozoospermia did not differ from concentrations in boys from fathers without severe oligozoospermia (154 ± 51 and 142 ± 47 ng/l, respectively; P = 0.4). CONCLUSIONS: The majority of ICSI boys have a significant increase in serum inhibin B, attaining normal values for pubertal status at the age of 14 years. ICSI adolescents from fathers with severely compromised spermatogenesis do not have lower inhibin B levels than those with fathers with normal spermatograms. Further follow-up of the spermatogenic potential of ICSI teenagers up to young adulthood is mandatory to confirm a normal reproductive capacity.

How to manage osteoporosis before the age of 50.

This narrative review discusses several aspects of the management of osteoporosis in patients under 50 years of age. Peak bone mass is genetically determined but can also be affected by lifestyle factors. Puberty constitutes a vulnerable period. Idiopathic osteoporosis is a rare, heterogeneous condition in young adults due in part to decreased osteoblast function and deficient bone acquisition. There are no evidence-based treatment recommendations. Drugs use can be proposed to elderly patients at very high risk. Diagnosis and management of osteoporosis in the young can be challenging, in particular in the absence of a manifest secondary cause. Young adults with low bone mineral density (BMD) do not necessarily have osteoporosis and it is important to avoid unnecessary treatment. A determination of BMD is recommended for premenopausal women who have had a fragility fracture or who have secondary causes of osteoporosis: secondary causes of excessive bone loss need to be excluded and treatment should be targeted. Adequate calcium, vitamin D, and a healthy lifestyle should be recommended. In the absence of fractures, conservative management is generally sufficient, but in rare cases, such as chemotherapy-induced osteoporosis, antiresorptive medication can be used. Osteoporosis in young men is most often of secondary origin and hypogonadism is a major cause; testosterone replacement therapy will improve BMD in these patients. Diabetes is characterized by major alterations in bone quality, implying that medical therapy should be started sooner than for other causes of osteoporosis. Primary hyperparathyroidism, hyperthyroidism, Cushing's syndrome and growth hormone deficiency or excess affect cortical bone more often than trabecular bone.

Well-nourished cystic fibrosis patients have normal mineral density, but reduced cortical thickness at the forearm.

UNLABELLED: Our goal was to assess mineral density and geometry of the cortex at the level of the forearm in adolescents and young adults with cystic fibrosis, using peripheral quantitative computed tomography. We found that density was normal, but cortical thickness significantly reduced, as well in males as in females. INTRODUCTION: Our goal was to measure bone mineral density as a volumetric density, as well as total cross-sectional area, cortical area and cortical thickness, using peripheral quantitative computed tomography (pQCT) at the forearm in adolescents and young adults with cystic fibrosis. We evaluated relationships between forearm bone measurements and body composition assessed using dual energy X-ray absorptiometry (DXA). METHODS: An XCT 2000 pQCT (Stratec, Pforzheim, Germany) and a QDR 4500 A-upgraded to Discovery DXA device (Hologic, Waltham, MA, USA) were used. RESULTS: Forty-eight patients (31 males,17 females, mean+/-SD 20+/5 years) were studied. Anthropometric features were: height 169+/- 10 cm, SDS 0.05+/-0.12, body mass index 19.8+/- 2.5 kg/m(2), SDS -0.56+/-0.14. Bone mineral density and total cross-sectional area of the forearm and body composition were normal, whereas cortical thickness was significantly reduced in males (mean Z-score - 1.22, p < 0.05), and in females (mean Z-score - 1.61, p < 0.05). Total body lean mass correlated more strongly with cortical thickness (r = 0.72, p < 0.001) than with total bone mineral density at the proximal radius (r = 0.39, p < 0.05). CONCLUSIONS: Adolescents and young adults with cystic fibrosis, presenting with only a slight degree of underweight, have at the radius a preserved bone mineral density but a reduced cortical thickness.

Concerns, expectations and perception regarding stature, physical appearance and psychosocial functioning before and during high-dose growth hormone treatment of short pre-pubertal children born small for gestational age.

BACKGROUND/AIMS: Few data are available about parental concerns and psychosocial functioning of young children born small for gestational age (SGA) treated with growth hormone (GH). The present study focused on the perception of short stature and the concerns and expectations of the parents regarding GH treatment. METHODS: Forty prepubertal short SGA children, randomized into a GH-treated and a GH-untreated group, and their parents were evaluated by a questionnaire and a semi-structured interview at start and after 2 years of follow-up. RESULTS: Before start, 85% of the parents were concerned about short stature, 76% expected an increase in adult height of > or =10 cm and 81% expected a positive impact on well-being. Half of the parents expressed fears regarding GH treatment. After 2 years, more parents of treated children reported obvious growth and physical changes, and fewer parents reported teasing because of short stature. An improvement of well-being was reported by half of the parents of treated and untreated children. Fears about GH treatment disappeared almost completely. CONCLUSION: The perspective of GH treatment induced major adult height expectations. In treated children, the physical effects of GH treatment became obvious, teasing because of short stature decreased and initial concerns about short stature and GH therapy decreased.

Metabolic Syndrome and Its Components in Young Adults Conceived by ICSI.

BACKGROUND: Intracytoplasmic sperm injection (ICSI) conception presents the early embryo with a radically different environment, which may lead to permanent alterations to key cardiometabolic processes. Blood pressure, indicators of insulin resistance, and lipid profiles have previously been studied in offspring born after in vitro fertilisation (IVF) and ICSI, with conflicting findings. Also, results in young adults born after ICSI are lacking. AIM: We investigated if young adult men and women conceived by ICSI more frequently have metabolic syndrome and its individual features in comparison to spontaneously conceived controls. DESIGN: Cardiometabolic and anthropometric parameters from 126 longitudinally followed young adults conceived by ICSI were compared to those of 133 controls. RESULTS: At age 18 years, only 1 of the participants displayed the metabolic syndrome (1 control woman). Mean concentrations of total cholesterol, triglycerides, insulin, HOMA-IR, and blood pressure were comparable between the ICSI conceived and control participants. A higher proportion (19.6%) of men conceived by ICSI had low (<40 mg/dl) HDL cholesterol compared to controls (5.6%). CONCLUSIONS: While men conceived by ICSI, but not women, had lower mean HDL cholesterol concentrations in comparison to controls, other markers of the metabolic syndrome were not affected by the mode of conception.