Journal of Pediatric Endocrinology & Metabolism : JPEM

OBJECTIVES: Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity. CASE PRESENTATION: She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established...

OBJECTIVES: Few studies addressed the efficacy of human insulin regimens (mostly premix insulin) used in many low-and-middle income countries on glycemic control of children and adolescents with diabetes. The aim of this study was to assess the efficacy of the premix insulin on the glycated hemoglobin (HbA1c ) in comparison to the regular with NPH insulin scheme. METHODS: A retrospective study was carried out from January 2020 to September 2022 on patients with type 1 diabetes aged below 18 years followed in Burkina Life For A Child program...

OBJECTIVES: Vitamin D deficiency is common in the pediatric group with obesity and is a risk factor for metabolic syndrome. Supplementation of vitamin D may require higher dosing than in normal-weight children. The aim of our study was to investigate the response of supplementation on vitamin D levels and the metabolic profile in youths with obesity. METHODS: Children and adolescents with obesity (Body mass index >2.3 SDS, age ≤18 years) and hypovitaminosis D (level <20 μg/L) who entered a residential weight-loss program in Belgium, were included during summer...

OBJECTIVES: The aim of study was to evaluate the 2D shear wave sonoelastography (SWE) findings of the thyroid gland in children with type 1 diabetes mellitus (T1DM) with normal gray-scale findings and without thyroid autoimmunity (AIT) and obtain data that will be useful for the early detection of glandular involvement. METHODS: The study included 46 T1DM patients (mean age: 11.28 ± 3.3 years) and 46 healthy children (mean age: 12.01 ± 3...

OBJECTIVES: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations. METHODS: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives...

OBJECTIVES: Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay. CASE PRESENTATION: A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia...

Rickets is the disease of a growing skeleton and results from impaired apoptosis of hypertrophic chondrocytes and mineralization of the growth plate. Nutritionally induced rickets, secondary to vitamin D and/or calcium deficiency, remains a major global problem. In this review, we discuss pathogenesis, clinical signs, investigation and management of nutritional rickets.

OBJECTIVES: We aimed to evaluate the stiffness of the thyroid parenchyma with Shear wave elastography (SWE) in children with Hashimoto's thyroiditis (HT) and healthy controls. METHODS: A total of 130 children with HT and 46 healthy controls were included in this study. The clinical and laboratory characteristics of the groups, thyroiditis stages in thyroid ultrasonography, and SWE scores which was obtained as kilopascal (kPa), were analysed. RESULTS: We observed that SWE scores were significantly higher in children with HT compared to healthy controls, and SWE scores increased significantly in HT group, as the thyroiditis stage increased (p<0...

OBJECTIVES: Epicardial adipose tissue (EAT) thickness, a novel marker of cardiovascular disease (CVD), is increased in children with a healthy weight and type 1 diabetes (T1D). The prevalence of obesity has increased in children with T1D and may confer additional CVD risk. The purpose of this study was to examine EAT thickness in youth with and without T1D in the setting of overweight/obesity. METHODS: Youth with overweight/obesity and T1D (n=38) or without T1D (n=34) between the ages of 6-18 years were included in this study...

OBJECTIVES: To evaluate the WHO-5 tool in pediatric and young adult subjects with type 1 diabetes, and to analyse associations with demographic/psychological characteristics. METHODS: We included 944 patients with type 1 diabetes 9-25 years of age, documented in the Diabetes Patient Follow-up Registry between 2018 and 2021. We used ROC curve analysis to determine optimal cut-off values for the WHO-5 scores to predict psychiatric comorbidity (ICD-10-diagnoses) and analysed associations with obesity, HbA1c , therapy regimen, and lifestyle via logistic regression...

OBJECTIVES: More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ  (or eutopic gland) have transient hypothyroidism. It remains difficult to determine early on whether hypothyroidism will be transient which may cause overtreatment and its complications in these children. Our primary aim was to determine prognostic factors for transient hypothyroidism in children with congenital hypothyroidism and eutopic gland or thyroid hemiagenesis. METHODS: We retrospectively reviewed medical records of 111 children, born between 1996 and 2017, diagnosed with congenital hypothyroidism and eutopic gland or hemiagenesis and treated at the Nancy Regional and University Hospital...

OBJECTIVES: Congenital hypothyroidism (CH) is still one of the most common causes of preventable cognitive impairment in children, and its early detection and treatment prevent irreversible neurodevelopmental delay. Depending on the underlying cause, cases with CH may be transient or permanent. This study aimed to compare the developmental evaluation results of transient and permanent CH patients and to reveal any differences. METHODS: A total of 118 patients with CH, who were followed up jointly in pediatric endocrinology and developmental pediatrics clinics, were included...

OBJECTIVE: Betamethasone causing iatrogenic Cushing's syndrome (CS) in infants are rarely reported. CASE PRESENTATION: ∗ In this case report, there were severe signs of CS, such as considerable weight acceleration and concurrent height deceleration, hirsutism and ecchymosis of the face, and buffalo pad, which are often found in adults. ∗ Clobetasol propionate, diflucortolone valerate, and dexamethasone nasal sprays were used in the majority of previously reported cases of corticosteroid abuse, whereas this is the first case of CS in an infant as a result of the use of betamethasone cream, also known as betnesol, which is frequently used by mothers in developing countries as a treatment for rashes...

No abstract text is available yet for this article.

OBJECTIVES: Somatrogon is a long-acting recombinant human growth hormone (GH) employed as a once-weekly treatment for children with GH deficiency (GHD). A 12-month, phase 2 study of once-weekly somatrogon vs. once-daily GH (Genotropin® ) was initiated, after which participants could enroll into an open-label extension (OLE) evaluating the safety and efficacy of long-term somatrogon treatment. METHODS: There were five study periods, Periods I and II were 6 months each while Periods III, IV, and V were 12 months each...

OBJECTIVES: Long-term care of children with Congenital Adrenal Hyperplasia (CAH) has psycho-social implications for parents. Experts recommend a customized educational program for parents to facilitate their psychological adaptation and improve disease management. Such educational programs often provided by nurse counsellors are well evaluated in developed countries. There is a dearth of data on nurse-led counselling in the context of less developed countries. We aimed to evaluate the effect of a nurse-led counselling intervention on various psycho-social outcomes among parents of children with CAH...

OBJECTIVES: We sought to evaluate the impact of estrogen-containing treatment for heavy menstrual bleeding (HMB) on subsequent height compared to progesterone-only or non-hormonal treatment when initiated at menarche. METHODS: We performed a retrospective chart review of adolescent females aged 10-15 years who presented to an institution-affiliated outpatient, inpatient, or emergency setting for management of HMB within three months of menarche. Growth records over a 2 year period starting at menarche were recorded, and comparisons made among patients treated with 1) estrogen, 2) progesterone, and 3) non-hormonal methods (controls)...

OBJECTIVES: Data on bone density and stability in Turner syndrome (TS) are contradictory. A confounding factor for interpretation is short stature. The aim was to measure bone density, geometry and stability in girls with TS compared to idiopathic short stature (ISS). METHODS: From 1999 to 2008, 59 girls with TS (35 prepubertal) were evaluated by pQCT. Mean age was 8.9 in prepubertal and 17.3 years in adolescent girls. Mean height was -3.1 and -1.8 SDS in prepubertal treatment-free and in adolescent, formerly rhGH-treated girls...

OBJECTIVES: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with heterogeneous presentations but some consistent clinical features, including hyperprolactinaemia at diagnosis. We highlight when the diagnosis of ROHHAD should be considered at an early stage. CASE PRESENTATION: All three patients presented between 4 and 6 years old with rapid-onset obesity...

OBJECTIVES: Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. CASE PRESENTATION: Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy...