ESPE Abstracts

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

Background: Thyroid cancers are rare in childhood. ATA guideline (Pediatric section) has been applied in daily practice since 2015. It is very significant to accurately predict the risk in the management of differentiated thyroid cancer(DTC). For this purpose, we shared our single center-20-year-experience about the follow-up features and management of childhood and adolescent thyroid cancer. We aimed to evaluate the dynamic risk stratification (DRS) and the o...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

Aim: To investigate the prevalence of hirsutism among adolescents using the modified Ferriman-Gallway (FG) Scale and to determine etiological factors in childen with hirsutism.Materials and methods: The study was in 2380 female adolescents aged 12–18 years. The modified FG score was used in the diagnosis and monitoring of hirsutism. Scores of 8 or above were regarded as hirsutism. Two hundred thirty-three volunteers determined as having hirsutism we...

Background: Thyroid imaging is recommended to determine the aetiology of congenital hypothyroidism (CHT). Currently scintigraphy is the gold standard imaging modality. Negative scinitigraphy despite the presence of thyroid tissue may lead to a spurious diagnosis of athyreosis. Few centres routinely perform both scinitgraphy and ultrasound so that the incidence of misclassified athyreosis is unknown.Aim: To describe the incidence of sonographically normal...

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...