Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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.

Background: Most girls with Turner syndrome (TS) are intensively followed by paediatricians, but are lost to follow-up when they reach adulthood. To gain insight into the adult medical and psychosocial situation, we performed a survey in young adult TS patients. Patients and Methods: A questionnaire concerning current health status, education, occupation and living situation was sent to 160 young adult TS women, all treated during childhood with GH and oestrogen if needed. Results: We received 102 completed questionnaires. Mean ± SD age at reception of the questionnaire was 23.4 ± 3.3 years, height 153.3 ± 5.2 cm, body mass index 23.7 ± 4.9 kg/ m2. Age and auxological parameters were comparable between responders and non-responders. Thirteen (12.7%) responders were not under regular medical care; 15 (14.7%) were seen by a general practitioner, while 28 (27.4%) needed several specialists. Forty-one (40.2%) patients reported health problems. The most frequently reported problem was hypertension (10.7%), followed by hypothyroidism (5.8%) and back problems (4.9%). Twenty-four (23.5%) of the 41 patients were taking medication for the indicated health problems. Twenty-six (25.5%) women had undergone spontaneous puberty; 16 of them reported spontaneous menstruations while 10 received oestrogen replacement therapy. Of the 76 women with induced puberty, 11 (14.5%) were not taking any oestrogen anymore. Compared with the general population, more TS women attended university and more obtained higher education. Forty-six women (45.1%) were working full-time, 7 (6.9%) were unemployed, and 4 (3.9%) received an allocation. Seventy (68.6%) patients were still living with their parents, while 18 (17.6%) were living together or married, and 14 (13.7%) were living alone. Conclusions: The transition of adolescents with TS to adult medical care is not optimal in Belgium. Although 40.2% of these young women reported health problems, 12.7% did not consult any physician. Many TS women did not take oestrogen replacement therapy. A specialized multidisciplinary approach for adults with TS is needed in order to optimize health and psychosocial status in these women. Published in: Hormone Research (2004), vol. 62, n°4, pp. 161–167 DOI: 10.1159/000080099 Status: Postprint (Author’s version)

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.

The measurement of handgrip force (HGF) is recommended by the combined ESPEN-ESPGHAN-ECFS guidelines on nutrition care in cystic fibrosis (CF) patients. This recommendation is however based on data in small groups of adult CF patients, while pediatric data are scarce. Our study aimed to: 1) investigate hand grip force in CF children and adolescents; 2) analyze HGF in relation to nutritional and pulmonary status; 3) provide longitudinal data on changes in HGF in CF children and adolescents. HGF data of CF children (≤16 years old at the time of inclusion) having a body composition and lung function measurement at a yearly follow up were analyzed retrospectively over a 10-year period (2007–2016). Z-scores for weight (WFA), height (HFA), body mass index (BMI) and mid-upper arm circumference (MUAC) were calculated using Belgian reference data. HGF z scores, adjusted for height were calculated based on a Scottish groups of healthy controls (n=536). Forced vital capacity (FVC) and forced expiratory volumes in one second (FEV1) were expressed as % for age and body height. A total of 482 HGF measurements from 107 patients were recorded, with a median (Q1;Q3) of HGF 3 (2;5) measurements per patient. The median (Q1;Q3) age across all measurements was 12.1 (9.1;15.2) and 9.1 (6.8;13.1) years at the time of first HGF recording; 61 (57.0%) were male, representing 290/482 (60.2%) of the measurements. Pancreas insufficiency was present in 94/107 (87.9%), corresponding with 427/482 (88.6%) of the measurements. Their mean (95% CI) WFA, HFA, BMI and MUAC z-scores across all measurements were -0.55 (-0.65;-0.46), -0.42 (-0.51;-0.33), -0.44 (-0.53;-0.35) and -0.54 (-0.63;-0.44) and their overall median (Q1;Q3) FVC and FEV1 were 97% (88%;106%) and 97% (84%; 106%). The mean (95% CI) HGF across all measurements was -0.99 (-1.10;-0.88); 104 measurements had HGF scores <-2. HGF was significantly different according to sex (p<0.001) but not pancreas involvement (p=0.800). HGF correlated significantly (p<0.001) with overall WFA (r=0.85), HFA (r=0.82), BMI (r=0.62), age (r=0.79) and MUAC (r=0.73), FEV1 (r=0.15, p=0.002) and FVC (r=0.26). However, based on linear models, change of HGF was not predictive of a change in lung function or MUAC over time (p>0.1). CF children and adolescents have a lower handgrip force than healthy controls. HGF correlated significantly with lung function and anthropometric factors at cross sectional time points, but a change in HGF was not predictive of a change in lung function over time. None

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.

Objectives. Information on the efficacy of GH treatment in short SGA children starting their treatment in adolescence is limited. Therefore, adult height (AH), total height gain, and pubertal height gain were evaluated in short SGA children who started GH treatment at pubertal onset. Patient and Methods. Growth data of 47 short SGA adolescents (22 boys) who started GH treatment at pubertal onset (PUB group) were compared with results from 27 short SGA patients (11 boys) who started GH therapy at least 1 year before pubertal onset (PrePUB group). Results. The PUB group achieved a mean (±SD) total height gain of 0.8 ± 0.7 SDS and an AH of −2.5 ± 0.7 SDS after 4.1 ± 1.1 years of GH treatment with a dosage of 41.8 ± 8.4 μg/kg/day. These results were comparable with those in the PrePUB group, which was treated for a longer duration (5.8 ± 2.1 years), resulting in a total height gain of 1.1 ± 0.7 SDS and an AH of −2.1 ± 1.0 SDS. Multiple regression analysis showed a significantly lower height gain in pubertal patients, females, and patients weighing less at start of GH treatment. An AH above −2 SDS and above the parent-specific lower limit of height was, respectively, reached in 28% and 70% of PUB and 44% and 67% of PrePUB patients (NS). AH SDS was positively correlated with the height SDS at start of GH. Conclusions. Short SGA adolescents starting GH therapy at an early pubertal stage have a modest and variable height gain. A normal AH can be expected in one third of the patients, especially in those with a smaller height deficit at onset of GH treatment.

SummaryObjectiveDifferences 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.DesignCohort study.PatientsOne hundred twenty‐seven young adults conceived by ICSI and 138 peers born after spontaneous conception.MeasurementsAnthropometric 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).ResultsWhile 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.ConclusionWhile 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.

Summary 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.

The cover image, by J. Schaefers et al., is based on the Original Article Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis, DOI: 10.1111/cen.13362.

Background(99m)Technetium scintigraphy ((TS)-T-99m) is the gold standard' for measuring gastric emptying (GE), but it is associated with a radiation exposure. For this reason, the C-13-octanoic acid breath test (C-13-OBT) was developed for measuring GE of solids. The objective of this study was to determine normal values for gastric half-emptying time (t(1/2)GE) of solids in healthy children.MethodsGastric emptying of a standardized solid test meal consisting of a pancake evaluated with (TS)-T-99m and C-13-OBT was compared in 22 children aged between 1 and 15 years with upper gastrointestinal symptoms. Subsequently, the C-13-OBT was used to determine normal values for GE of the same solid test meal in 120 healthy children aged between 1 and 17 years.Key ResultsThe results showed a significant correlation (r = 0.748, p = 0.0001) between t(1/2)GE measured with both techniques in the group of children with upper gastrointestinal symptoms. In the group of healthy children, mean t(1/2)GE was 157.7 54.0 min (range 71-415 min), but t(1/2)GE decreased with age between 1 and 10 years and remained stable afterward. There was no influence of gender, weight, height, body mass index, and body surface area on t(1/2)GE.Conclusions & InferencesNormal values for GE of solids measured with the C-13-OBT using a standardized methodology were determined in healthy children. We propose to use this method and corresponding reference ranges to study GE of solids in children with gastrointestinal problems.

The prevalence of disease-related under-nutrition in hospitalized children has not decreased significantly in the last decades in Europe. A recent large multi-centric European study reported a percentage of underweight children ranging across countries from 4.0% to 9.3%. Nutritional screening has been put forward as a strategy to detect and prevent under-nutrition in hospitalized children. It allows timely implementation of adequate nutritional support and prevents further nutritional deterioration of hospitalized children. In this paper, a hands-on practical guideline for the implementation of a nutritional care program in hospitalized children is provided. The difference between nutritional status (anthropometry with or without additional technical investigations) at admission and nutritional risk (the risk of the need for a nutritional intervention or the risk for nutritional deterioration during hospital stay) is the focus of this article. Based on the quality control circle principle of Deming, a nutritional care algorithm, with detailed instructions specific for the pediatric population was developed and implementation in daily practice is proposed. Further research is required to prove the applicability and the merit of this algorithm. It can however serve as a basis to provide European or even wider guidelines.