We analyzed whether childhood craniopharyngioma predisposes to obesity and growth impairment. Height/length, body mass index (BMI), and hypothalamic involvement were evaluated in 90 patients at standardized ages and time points before, after, and at the time of diagnosis. Relevant decreases in height sd score (SDS) started at 10-12 months of age and persisted until diagnosis of childhood craniopharyngioma. Relevant increases in BMI SDS were detectable between 4 and 5 yr of age. Postoperative BMI SDS (yr 1-6) had a weak positive correlation with BMI SDS at the time of diagnosis. In linear regression analysis, hypothalamic tumor involvement (P < 0.001), ponderal index at birth (P = 0.014), and BMI SDS at age 6-7 months (P = 0.029) and at age 5 yr (P < 0.001) had relevant and independent impacts on the development of obesity. Patients with hypothalamic involvement (n = 48) presented lower ponderal index and BMI SDS at birth and higher BMI SDS at the time of diagnosis (P < 0.001) as well as during annual follow-up (P < 0.001) compared with patients without hypothalamic involvement (n = 42). From childhood (3.5-4 yr) to the time of diagnosis, growth rates were reduced for patients with hypothalamic tumor involvement. Patients without hypothalamic involvement presented reduced growth rates in early infancy (age 10-12 months) that persisted until diagnosis. We conclude that reduced growth rates occur quite early in history; BMI SDS increases occur later and are predictive of obesity. Hypothalamic involvement is the major risk factor for obesity in patients with childhood craniopharyngioma.

OBJECTIVEWe aimed at analyzing the frequency, clinical characteristics, and trends associated with the occurrence of diabetic ketoacidosis (DKA) at the onset of type 1 diabetes on the basis of long-term follow-up data.RESEARCH DESIGN AND METHODSA total of 106 pediatric diabetes centers in Germany and Austria participated in this study. Data from14,664 patients with type 1 diabetes collected between 1995 and 2007 were suitable for evaluation. DKA was defined and classified according to the International Society for Pediatric and Adolescent Diabetes consensus guidelines.RESULTSDKA was observed in 21.1% of patients. The frequency of DKA, including the severe form, remained unchanged throughout the 13-year observation period. The frequency of DKA was particularly striking among children <5 years of age (26.5%).CONCLUSIONSKetoacidosis occurring at diabetes onset continues to be a difficult problem. Our data show no significant change in the frequency and magnitude of DKA over the last 13 years.

Context Autoimmune diseases affect ~8% of the population. Type 1 diabetes mellitus (T1DM) is linked to other autoimmune diseases (AID) like autoimmune thyroid disease, or Addison’s disease (AD) that may impact diabetes therapy and outcome. Objective To analyze demographic and clinical characteristics of other AID in T1DM from a large standardized registry, the prospective diabetes follow-up (DPV). Methods We searched the registry for T1DM with the additional diagnosis of Hashimoto’s thyroiditis (HT), Graves’ disease (GD), and/or AD. T1DM with other AID (n=6,166, 5.4%) were compared to isolated T1DM (n=107,457). For group comparisons, we used multivariable regression models with age, sex, diabetes duration, migration background, and type of insulin regimen as basic adjustments (microvascular endpoints: additionally adjusted for HbA1c). Results Patients with additional AID were more often female (54.7 vs. 32.0%, p&lt;0.001) and had a longer diabetes duration (7.9 [4.2-12.5] vs. 6.7 [2.7-12.9] years, p&lt;0.001). After adjustment, daily insulin dosage was higher in AD and HT compared to isolated T1DM (0.858±0.032 and 0.813±0.005 vs. 0.793±0.001 IU/kg*d). Retinopathy was less common in HT (1.5%), whereas it was more frequent in GD (3.1%) if compared to isolated T1DM (1.8%). In both GD and HT, microalbuminuria occurred less often (10.6% and 14.3% vs. 15.5%) and neuropathy (2.1% and 1.8% vs. 0.8%) was more common compared to isolated T1DM. Conclusions T1DM with additional AID show heterogeneous differences compared to isolated T1DM. T1DM plus AD or HT requires more insulin. Further, the rate of neuropathy is higher in HD or GD, whereas the rate of microalbuminuria is lower.

Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased thyroid-stimulating hormone (TSH) at screening and/or confirmation. The cohort was divided into before (A) and after (B) guideline publication in 02/2011, to assess the guideline’s influence on medical care. A total of 659 patients were analyzed as group A (n = 327) and group B (n = 332) representing 17.5% and 10.3% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxine doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented. In the first three years of life, less than half of the patients underwent audiometry; developmental assessment was performed in 49.3% (A) and 24.8% (B) (p < 0.01). Documentation of CH patient care by pediatric endocrinologists seemed to be established, however, it reflected only a minority of the affected patients. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend, and optimize care and outcome in patients with rare diseases such as CH.

Background: The occurrence of antidrug antibodies is common in children treated with recombinant human growth hormone (rhGH). However, their clinical significance is unclear. Objective: This study aimed to examine the clinical significance of anti-GH antibodies by analyzing the phenotype of patients who tested positive in relation to the quantity of anti-GH antibodies. Method: In this laboratory-based retrospective study encompassing a time span of 6 years, all positive samples were identified, and senders were contacted. Anti-GH antibodies were measured using a radioprecipitation assay; positive samples underwent a confirmatory assay. Results: Out of a total of 104 samples from 66 patients, positive test results were found in 28 samples from 13 patients. Clinical data were available from all but one. The group with positive test results comprised 6 patients with a normal response to GH provocative tests (group A) and 6 with an insufficient response or with isolated GH deficiency (IGHD) type 1A (group B). Diagnoses in group A were neurosecretory dysfunction, bioinactive GH syndrome and constitutional delay of growth and puberty. Diagnoses in group B were IGHD type 1A, septo-optic dysplasia, and cerebral midline defect with multiple pituitary hormone deficiency. Insufficient growth response to rhGH was absent except in one sibling pair with IGHD type 1A and a patient with cerebral midline defect. These patients had the highest concentrations of anti-GH antibodies. Conclusions: The biological significance of anti-GH antibodies seems to be limited to patients with high concentrations of anti-GH antibodies. For all other patients, we recommend a careful “wait and see” strategy and monitoring antibody titers.