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Introduction: Diagnosing hypoglycemia in infants and children presents significant challenges. Our objective was to elucidate the diagnoses and clinical features of children with hypoglycemia referred to a pediatric endocrine tertiary clinic., Methods: Retrospective study of 154 children (0-18 years old) presenting with hypoglycemia, during 1992-2018., Results: The cohort was divided by clinical diagnosis into six groups: ketotic hypoglycemia (n=45, 29.2%), congenital hyperinsulinemic hypoglycemia (n=35, 22.7%), transient hyperinsulinemic hypoglycemia (n=28, 18.2%), metabolic disorder (n=14, 9.1%), systemic disease/syndrome (n=15, 9.7%), and hormone deficiencies (n=8, 5.2%). Two patients had insulinoma and in 7 (4.5%) no diagnosis was elucidated. At diagnosis, 58 (37.7%) were <1 month old, 23 (14.9%) aged 1-12 months, 58 (37.7%) aged 1-6 years, and 15 (9.7%) aged 6-18 years. Hypoglycemia etiology varied among neonates, infants, and children. In eight patients hypoglycemia was asymptomatic. Of 47 patients who completed a diagnostic fast, 31 became hypoglycemic, yet a significant added value for diagnosis was only found in 14 (29.8%) patients., Conclusions: Hypoglycemia etiology in children is heterogeneous and varies by age. Any hypoglycemia measured in a child should be seriously evaluated as 7% are asymptomatic. Work-up should be tailored based on age, and clinical, biochemical, and imaging findings. Despite extensive work-up, in a significant number of patients the mechanism underlying pediatric hypoglycemia remains an enigma. This emphasizes the unmet needs and challenges in studying pediatric hypoglycemia., (The Author(s). Published by S. Karger AG, Basel.)

Introduction: Data on adult height (AHt) in individuals with non-classical congenital adrenal hyperplasia (NCCAH) are inconsistent., Methods: We conducted a retrospective study of 109 females diagnosed with NCCAH at age &lt;18 years who reached AHt. We studied AHt compared to target height (THt) and the correlation of AHt with clinical parameters., Results: The mean age at diagnosis was 9.7 ± 4.4 years; the mean follow-up was 10.9 ± 6.3 years. Hydrocortisone treatment (11.0 ± 5.0 mg/m2) was initiated at age 9.7 ± 4.0 years. Bone age was more advanced in girls who presented with central precocious puberty or early puberty (CPP/EP) (n = 43) than with timely puberty. AHt-standard deviation score (SDS) was lower than Ht-SDS at diagnosis (-0.8 ± 1.0 vs. +0.2 ± 1.3; p &lt; 0.001) and -0.3 SDS shorter than THt (p &lt; 0.001). Height, weight, and body mass index-SDS at last visits were similar between patients treated with glucocorticoids (n = 92) and those never treated (n = 17). AHt was comparable between patients with timely puberty and with CPP/EP, with no difference between those treated or not by GnRH analogue. AHt was similar between patients who were fully pubertal (Tanner 5), pre-pubertal (Tanner 1), and pubertal (Tanner 2-4) at diagnosis (158.0 ± 7.6, 158.1 ± 6.1, and 157.5 ± 6.5, respectively; p = 0.9). AHt-SDS was correlated with THt (R = 0.67, p &lt; 0.001) and Ht-SDS at diagnosis (R = 0.7, p &lt; 0.001) but not with age at diagnosis (R = -0.05, p = 0.6), the extent of bone age advancement (R = -0.04, p = 0.72), glucocorticoid treatment duration (R = -0.11, p = 0.34), or dose (R = -0.04, p = 0.70)., Conclusion: AHt of females diagnosed with NCCAH in childhood was lower than their THt. Glucocorticoid treatment duration and dose, pubertal status at diagnosis, and having CPP or EP were not correlated with AHt., (© 2023 The Author(s). Published by S. Karger AG, Basel.)

Background: Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80-85% of patients. Paired box gene 8 (PAX8) is a thyroid transcription factor that plays an important role in thyroid organogenesis and development. To date, 22 different PAX8 gene mutations have been reported., Methods: Four generations of a Hungarian Jewish family were affected, and in the 3 generations studied, 9 males and 4 females were affected and 3 first-degree relatives were unaffected. Six were diagnosed at birth [thyroid-stimulating hormone (TSH) level 59-442 mU/l] and 7 at 2-48 years of age (TSH level 6-223 mU/l). One affected patient had thyroid hemiagenesis on ultrasound., Results: Direct sequencing of the PAX8 gene revealed a novel single nucleotide substitution (c.162 A>T) in exon 2 that resulted in the substitution of the normal serine 54 with a cysteine (S54C), which segregated with elevated serum TSH levels. Other mutations of the same amino acid (S54G and S54R) have also been shown to produce functional impairment., Conclusion: We report a large family with a novel mutation in the PAX8 gene presenting with variable phenotype and with a high proportion of affected family members., Competing Interests: The authors declare that they have no conflict of interest., (© 2016 S. Karger AG, Basel.)

Background/aims: To prospectively evaluate the long-term impact of valproate (VPA) versus carbamazepine (CBZ) on anthropometric, hormonal, and metabolic parameters in young male patients treated for epilepsy., Methods: Of 61 boys with newly diagnosed epilepsy followed up, 24 were excluded from analysis (17 were lost to follow-up and 7 changed therapy within <1 year). Findings were compared by time, treatment (VPA or CBZ), and epilepsy type (generalized or partial) as well as against a matched control group with adequately treated hypothyroidism., Results: Twenty-four boys were treated with VPA and 13 with CBZ. The weight-standard deviation score (SDS) significantly increased during the first 6 months of treatment (p < 0.001), irrespective of the drug type, but decreased between the first and the last visit (p = 0.01). In patients with generalized epilepsy, there was a slight decrease in height- and weight-SDS between the first and the last visit (p = 0.04 and p = 0.01, respectively). The height-SDS at the last visit was comparable to the parental height-SDS. The mean age at puberty onset was 11.2 and 11.4 years in the study and the control group, respectively (p = 0.08). There were no significant differences in the other parameters by treatment or epilepsy type., Conclusions: Long-term therapy with VPA or CBZ has no significant endocrinological or metabolic adverse effect on male children and adolescents with epilepsy., (© 2015 S. Karger AG, Basel.)

Background/aims: Few studies have addressed the role of the glucagon stimulation test (GST) in evaluating the hypothalamic-pituitary-adrenal axis in children. We investigated the diagnostic value of the GST in evaluating the adrenocortical response in short healthy children., Methods: The GST was performed in 190 children investigated for short stature. A peak cortisol >500 nmol/l was considered a normal response. In the 45 (23.7%) with subnormal response, a 250-μg ACTH test was done., Results: The rate of subnormal adrenal response to GST was higher among boys (33.9 vs. 8.9%, p < 0.001) and among children ≥6 years than among younger children (32.7 vs. 18.4%, p < 0.02). Both mean basal and peak cortisol levels were higher in girls than in boys: 381 ± 165 vs. 319 ± 151 nmol/l (p = 0.003) and 741 ± 102 vs. 595 ± 208 nmol/l (p < 0.001), respectively. Peak cortisol on GST was associated with basal cortisol (r = 0.45, p < 0.001) but not with glucose nadir (r = -0.31, p = 0.67), peak GH (r = 0.069, p = 0.33) or BMI-SDS (r = -0.08, p = 0.28). Peak cortisol was >500 nmol/l in all the patients undergoing an ACTH stimulation test., Conclusions: Since adrenal response to GST is age- and gender-related and the false-positive rate is high, its routine performance in healthy children warrants reconsideration., (© 2014 S. Karger AG, Basel.)

Pelvic ultrasound evaluation of girls presenting with secondary sex characteristics before the age of 8 years may help to differentiate precocious puberty from premature thelarche, functioning ovarian cyst, and obesity. However, although uterine and ovarian measurements are significantly higher in girls with true precocious puberty than controls, there is a significant overlap of normal prepubertal and early pubertal values. In girls with precocious puberty treated with gonadotropin-releasing hormone analogue, ultrasound is a valid tool for monitoring ovarian suppression., (Copyright © 2011 S. Karger AG, Basel.)

Background: Type 1 diabetes (T1D) patients are at risk for additional autoimmune diseases (AID)., Objective: To compare the characteristics of associated autoimmunity among familial (parent-offspring and sib-pair) subgroups and sporadic T1D patients., Patients and Methods: Data regarding AID in T1D patients and their nuclear family members were extracted from medical files of 121 multiplex T1D families (58 parent-offspring, 63 sib-pairs) and 226 sporadic controls followed between 1979 and 2008., Results: The prevalence of associated autoimmunity was similar in familial and sporadic cases (33.6 vs. 32.7%). The frequency of additional AID and percentage of patients with two or more coexistent AID were significantly higher among sib-pairs than parent-offspring (p = 0.05 and p = 0.04, respectively). The median time elapsed between diagnosis of T1D and occurrence of additional autoimmunity tended to be shorter in the sib-pairs. Only in familial cases did a positive autoimmune family background predict the development of coexistent autoimmunity (OR = 2.11, CI [1.0, 4.49] p = 0.05)., Conclusions: Among sib-pairs with T1D, the higher prevalence of additional AID, the increased number of diseases per person, and the relatively earlier appearance of associated AID suggest an increased susceptibility for coexistent autoimmunity in this subgroup. Positive family history for autoimmunity in multiplex T1D families increased their risk for co-occurrence of AID., (Copyright © 2011 S. Karger AG, Basel.)