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Purpose: To compare the changes in body weight and glycemic control before and during the COVID-19 pandemic in people with type 1 diabetes (T1D). Methods: In 47,065 individuals with T1D from the German Diabetes Prospective Follow-up Registry (DPV), we compared the adjusted mean changes in BMI-Z-scores and HbA1c as well as the distribution of individual changes between four periods from March 2018 to February 2022, by sex and age group (4- < 11, 11- < 16, 16–50 years). Results: At population level, the only significant pandemic effects were a slight increase in BMI Z-score in prepubertal children (girls: + 0.03 in the first COVID year vs. before, P < 0.01; boys: + 0.04, P < 0.01) as well as a stabilization of HbA1c in all subgroups or even improvement in women (− 0.08%, P < 0.01). At individual level, however, heterogeneity increased significantly (p < 0.01), especially in children. More prepubertal children gained weight (girls: 45% vs. 35% before COVID; boys: 39% vs. 33%). More pubertal girls lost weight (30% vs. 21%) and fewer gained weight (43% vs. 54%). More children had a decreasing HbA1c (prepubertal group: 29% vs. 22%; pubertal girls: 33% vs. 28%; pubertal boys: 32% vs. 25%) and fewer had increasing values. More women had stable HbA1c and fewer had increasing values (30% vs. 37%). In men, no significant changes were observed. Conclusion: This real-world analysis shows no detrimental consequences of the two first COVID years on weight and HbA1c in T1D on average, but reveals, beyond the mean trends, a greater variability at the individual level. [ABSTRACT FROM AUTHOR]

Background: The PTEN hamartoma tumor syndrome (PHTS) encompasses several different syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor PTEN gene on chromosome 10. Loss of PTEN activity leads to an increased phosphorylation of different cell proteins, which may have an influence on growth, migration, and apoptosis. Excessive activity of the PI3K/AKT/mTOR pathway due to PTEN deficiency may lead to the development of benign and malignant tumors and overgrowth. Diagnosis of PHTS in childhood can be even more challenging than in adulthood because of a lack of well-defined diagnostic criteria. So far, there are no official recommendations for cancer surveillance in affected children and adolescents. Main body: All individuals with PHTS are at high risk for tumor development and thus might benefit from cancer surveillance strategies. In childhood, macrocephaly may be the only evident symptom, but developmental delay, behavioral problems, dermatological features (e.g., penile freckling), vascular anomalies, lipoma, or enlarged perivascular spaces in cerebral magnetic resonance imaging (cMRI) may help to establish the diagnosis. Regular psychomotor assessment and assistance in subjects with neurological impairment play an important role in the management of affected children. Already in early childhood, affected patients bear a high risk to develop thyroid pathologies. For that reason, monitoring of thyroid morphology and function should be established right after diagnosis. We present a detailed description of affected organ systems, tools for initiation of molecular diagnostic and screening recommendations for patients < 18 years of age. Conclusion: Affected families frequently experience a long way until the correct diagnosis for their child's peculiarity is made. Even after diagnosis, it is not easy to find a physician who is familiar with this rare group of diseases. Because of a still-limited database, it is not easy to establish evidence-based (cancer) surveillance recommendations. The presented screening recommendation should thus be revised regularly according to the current state of knowledge. [ABSTRACT FROM AUTHOR]

Although thyroid medications are frequently prescribed during pregnancy, paediatricians treating the respective neonates often have no information about the underlying maternal thyroid disease, and inconsistencies in postnatal diagnostics may result. We analysed a cohort of 1819 mothers admitted for delivery in 1 year to one hospital. We analysed the pre- and postpartum diagnostics in the mothers, the postnatal diagnostics in the neonates and their postnatal auxological development. Two hundred thirteen mothers (11.7%) had "thyroid disease"; 37 (2.0%) had Hashimoto thyroiditis, seven (0.4%) Graves' disease and 169 (9.3%) "thyroid disease of other origins". One hundred eighty-eight out of 213 (88%, 10.3% of the entire cohort) took levothyroxine. Pre- and postpartum diagnostics of the mothers and postnatal diagnostics of the neonates revealed striking inconsistencies. For example, 39 % of the gynaecologists routinely determined TSH, while only 59% carried out a dosage adjustment for known hypothyroidism. Second specialists were consulted in 86%. Unnecessary postpartum diagnostics were initiated in 19/213 neonates (9%). TRAb was analysed, however, in only one neonate born from the mothers with Graves' disease-a condition in which further diagnostic efforts are mandatory.Conclusion: Although many pregnant women have thyroid dysfunction, we observed a lack of uniformity in the diagnostic approach of the women and their neonates. What is Known: • Disturbed maternal thyroid function in pregnancy often has an adverse impact on both the mother and the foetus. • Although detailed guidelines for managing impaired maternal thyroid function during pregnancy have been published, their application in clinical practice varies widely. What is New: • Recommendations for managing the newborn of a mother presenting with thyroid disease of unknown entity are remarkably inconsistent. • This leads to a possible over-diagnosis in general and a potentially life-threatening failure to note neonatal hyperthyroidism requiring rapid treatment. [ABSTRACT FROM AUTHOR]

Patients with PTEN hamartoma tumor syndrome (PHTS) are at increased risk of developing benign and malignant tumors, including thyroid carcinoma. Benign thyroid lesions and single cases of thyroid carcinoma have been reported in children with PHTS. We conducted a retrospective, single-centered study including children and adolescents with a molecularly proven diagnosis of PTEN. Our cohort consists of 16 patients, with a mean age at diagnosis PHTS of 5.7 years. Twelve of 16 cases exhibited thyroid abnormalities (75%). In seven patients, thyroid abnormalities were already present at first ultrasound screening, in five cases they occurred during follow-up. Eight patients underwent thyroidectomy. Histopathology included nodular goiter, follicular adenoma, papillary microcarcinoma in a boy of six and follicular carcinoma in a girl of 13 years. Two patients had autoimmune thyroid disease.Conclusion: Thyroid disease is common in children with PHTS. Physicians caring for patients with early thyroid abnormalities and additional syndromal features should be aware of PHTS as a potentially underlying disorder. Ultrasound screening should be performed immediately after diagnosis of PHTS and repeated yearly or more frequently. Because of possible early cancer development, we recommend early surgical intervention in the form of total thyroidectomy in cases of suspicious ultrasound findings. What is Known: • PHTS patients are at high risk of developing benign and malignant tumors. • Individual cases of thyroid carcinoma in children have been reported. What is New: • Thyroid disease is even more common in children with PHTS (75%) than previously expected. • Frequently thyroid disease is the first organ pathology requiring diagnostic workup and therefore children with PHTS should be examined for thyroid disease right after diagnosis and receive follow-up on a regular basis throughout life. [ABSTRACT FROM AUTHOR]

Modern intensive care techniques have led to higher survival rates of extremely low birth weight infants (ELBW, birth weight <1,000 g). Previous studies have suggested a link between abnormal birth parameters and subsequent endocrine disturbances, but a possible impact on bone maturation during childhood has not been studied. ELBW children were studied (mean chronological age (CA), 6.01 years; range, 4.5-8.2). Skeletal maturation was assessed according to Greulich and Pyle (8). Bone age (BA) was defined as retarded when DeltaBA-CA was < -1 SD and accelerated when DeltaBA-CA was >+1 SD. BA was either retarded or accelerated in 15 patients (24.6%). Twenty-one of 61 radiograms (34.4%) showed a discordant BA with a marked gender difference (14/24 boys; 7/37 girls). DeltaBA-CA correlated significantly with BMI (r = 0.36; p = 0.005) and height SDS (r = 0.35; p = 0.006). We found significant correlations between BA and androgens. Insulin-like growth factor binding protein-1 (IGFBP-1), which decreases in insulin-resistant individuals, correlated negatively with BA. In conclusion, bone maturation in ELBW children is correlative with height and weight. It is modulated by a variety of metabolic factors, including IGFBP-1 and androgens. Bone age, together with height and weight catch-up, can thus possibly serve as early indicators of insulin resistance later in life. [ABSTRACT FROM AUTHOR]

We describe change in height, segmental proportion and weight in 46 children (19 girls, 27 boys, all but four prepubertal) diagnosed by a multidisciplinary team as having psychosocial short stature (PSS) who had a change in their environment (31 were separated from their family). The classification of PSS has recently been modified to include appetite disturbance at presentation: hyperphagic (IIA), non-hyperphagic (IIB) and anorexic type (III). The 46 patients were subdivided into these three classifications and analysed separately concerning their auxology and change in body mass index before and after intervention. Although in all groups a significant improvement in height velocity SDS was seen after intervention, subtle differences in body proportions could be demonstrated. Proportional short stature was seen in both non-anorexic types of PSS (type IIA and type IIB) and did not change with intervention, whereas a significant change in body proportion was found in the anorexic type (type III). Body mass index at presentation was within normal limits and did not increase significantly in any of the three subgroups after intervention. Conclusion: the main diagnostic feature of psychosocial short stature is catch-up growth after change of environment which occurs in almost all patients. The classification on the basis of appetite disturbance was supported by our auxological data with specific differences in body proportions. [ABSTRACT FROM AUTHOR]

We report 5 out of 214 children with classical congenital adrenal hyperplasia (CAH) that was not detected by neonatal 17-Hydroxyprogesterone screening. Therefore, diagnosis was only based on a suspect clinical picture and subsequent re-evaluation. In addition to 3 patients suffering from the simple virilizing form of CAH and not reported so far, the remaining 2 children whose CAH was missed by the screening suffered from the severe salt-wasting form. This report underlines the importance of a careful clinical investigation of newborns to detect signs of genital virilization. The differential diagnosis of classical CAH should be kept in mind even if neonatal screening is reported to be normal. [ABSTRACT FROM AUTHOR]