ABSTRACT
BACKGROUND: Growth failure can be a unique manifestation of untreated intestinal inflammation in children with inflammatory bowel disease (IBD). It can, however, be difficult to diagnose IBD in the absence of symptoms or in the presence of aspecific gastrointestinal symptoms. A delay in diagnosis is a risk factor for lower adult height. CASE DESCRIPTION: A 15--year-old boy was referred to a paediatric endocrinologist for growth failure and delayed puberty. Additional investigations were performed and he was diagnosed with Crohn's disease. CONCLUSION: IBD needs to be considered in a child presenting with growth failure and delayed puberty. A detailed medical history of any gastrointestinal symptoms should be taken. One should perform additional investigations according to the guidelines in a patient who fulfils criteria of short stature.
Subject(s)
Crohn Disease/diagnosis , Growth Disorders/etiology , Puberty, Delayed/etiology , Adolescent , Crohn Disease/complications , Humans , Male , Risk FactorsABSTRACT
BACKGROUND: Recessive mutations in the leptin receptor (LEPR) are a rare cause of hyperphagia and severe early-onset obesity. To date, the phenotype has only been described in 25 obese children, some of whom also had altered immune function, hypogonadotropic hypogonadism, reduced growth hormone secretion, hypothalamic hypothyroidism or reduced adult height. We provide a detailed description of the phenotype of 2 affected girls to add to this knowledge. METHODS: Whole-exome sequencing and targeted sequencing were used to detect the LEPR mutations. RNA analysis was performed to assess the effect of splice-site mutations. RESULTS: In 2 unrelated girls with severe obesity, three novel LEPR mutations were detected. Longitudinal growth data show normal childhood growth, and in the older girl, a normal adult height despite hypogonadotropic hypogonadism and the lack of an obvious pubertal growth spurt. Bone age is remarkably advanced in the younger (prepubertal) girl, and bone mineral density (BMD) is high in both girls, which might be directly or indirectly related to leptin resistance. CONCLUSION: The spectrum of clinical features of LEPR deficiency may be expanded with increased BMD. Future observations in LEPR-deficient subjects should help further unravel the role of leptin in human bone biology.
Subject(s)
Bone Density , Mutation , Obesity/genetics , Receptors, Leptin/genetics , Adolescent , Adult , Child , Female , Humans , Obesity/blood , Obesity/pathology , Receptors, Leptin/metabolism , Severity of Illness IndexABSTRACT
OBJECTIVES: Adherence to diabetes management tasks in type 1 diabetes mellitus (T1DM) patients deteriorates during puberty. This causes glycemic dysregulation, which accelerates the development of long-term complications. METHODS: The data of 25 poorly regulated T1DM-patients were compared before and 3 and 9 months after a psycho-educational program. Data were extracted from patient's records. The psycho-educational program consisted of three sessions for the patients and one for the parents in a 3-month period. RESULTS: HbA(1c)-levels at baseline (10.0 +/- 0.72%), decreased by 0.65% after 9 months follow-up (p = 0.08). A subgroup of 15 patients showed a clinical significant HbA(1c)-reduction of > or = 0.5% at 9 months follow-up (subgroup A), with a mean reduction of 1.6%. CONCLUSIONS: These encouraging results show that a psychoeducational program can be of benefit in improving HbA(1c)-levels in poorly regulated adolescents with T1DM. More research with a larger population is necessary to evaluate the value of psycho-educational programs in this age-group.
Subject(s)
Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/therapy , Glycated Hemoglobin/analysis , Patient Education as Topic , Program Evaluation , Adolescent , Blood Glucose/analysis , Blood Glucose/metabolism , Child , Diabetes Mellitus, Type 1/psychology , Directive Counseling/methods , Female , Follow-Up Studies , Humans , Male , Netherlands , Psychotherapy/methods , Retrospective StudiesABSTRACT
BACKGROUND: Malnutrition in early life retards growth permanently in both humans and rats, but the underlying mechanism is unclear. The purpose of this study was to test the hypothesis that early postnatal food restriction induces long-term changes in the growth hormone-insulin-like growth factor I (GH-IGF-I) axis. METHODS: We examined the effect of increasing litter size to 20 during lactation [food restriction (FR)] on growth and spontaneous GH secretion and serum IGF-I levels in 14- to 15-week-old rats. RESULTS: No catch up in body weight (BW; p < .05), total length (TTL; p < .001), or tail length (TL; females, p < .02; males, p < .001) was observed in the adult female and male FR rats. Spontaneous 6-hour rat GH (rGH) secretory profiles showed significantly increased (p < .05) mean baseline rGH plasma concentrations in the male adult FR versus control (CON) rats (38.0 +/- 3.6 versus 26.4 +/- 2.5 ng/mL). Serum IGF-I levels in the male adult FR rat were significantly (p < .01) reduced (751.3 +/- 50.3 versus 985 +/- 55.5 ng/mL) compared with male controls. rGH secretory pattern in the adult female FR rat and serum IGF-I concentrations were not different from female controls. CONCLUSIONS: FR during lactation leads to incomplete catch-up growth in adult female and male rats. In the adult male FR rat, increased baseline rGH secretion and reduced serum IGF-I concentrations might explain the slow growth.
