hrp0094p2-480 | Thyroid | ESPE2021

TBG deficiency and Central Congenital Hypothyroidism (CCH): Our experience in neonatal screening with TSH and T4

Chueca Maria J. , Grau Gema , Bertholt Laura , Artola Elena , Fernández Concepción , Sarasua Ainhoa , Rodriguez Amaia , Vela Amaia , Belza Amaia , Berrade Sara , Dura Teodoro , Alonso Pablo , Puges Laura , Diez Ignacio , Espada Mercedes , Ederra Maria , Ascunce Nieves , Porras Begoña , Rica Itxaso

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...

hrp0098p2-311 | Late Breaking | ESPE2024

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir Atilla , Turan Serap , Selver Eklioğlu Beray , Bayramoğlu Elvan , Unal Edip , Yildiz Melek , Acar Sezer , Eviz Elif , Dursun Fatma , Türkyılmaz Ayberk , Köprülü Özge , Özkaya Beyhan , Betül Kaygusuz Sare , Cantürk Merve , Sena Dönmez Ayşe , Turan Ihsan , Derya Kardelen Al Aslı , Buyukinan Muammer , Aydın Can , Dündar İsmail , Kırmızıbekmez Heves , Çamtosun Emine , Eroğlu Filibeli Berna , Akyürek Nesibe , Keskin Melikşah , Bilge Koca Serkan , Özkan Behzat , Bereket Abdullah , Demirbilek Huseyin

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

hrp0095p1-317 | Growth and Syndromes | ESPE2022

Effects of combined treatment with rhIGF-I and metreleptin in a girl with the severe insulin resistance Rabson-Mendenhall syndrom

Genthner N. , Rakicioglu H. , Karatsiolis P. , Wudy SA , Kamrath C.

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...

hrp0095p1-352 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Random Luteinizing Hormone Concentrations for Monitoring Central Precocious Treatment Efficacy

Zeitler Philip , M. Boldt-Houle Deborah , N. Atkinson Stuart

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...

hrp0089p2-p373 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Prevalence and Ethiologic Factors of Hirsutism in Adolescents

Kaplan Nılgun , Orbak Zerrin , Doneray Hakan

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...

hrp0089p2-p406 | Thyroid P2 | ESPE2018

Absence of Uptake on Scintigraphy Does Not Always Correlate with Athyreosis: Re-evaluation of Patients Diagnosed with Athyreosis Over a 10 Year Period in the Republic of Ireland

McGrath N , Hawkes CP , Ryan S , Mayne P , Murphy NP

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...

hrp0094p2-247 | Growth hormone and IGFs | ESPE2021

A girl with concurrent congenital adrenal hyperplasia, isolated growth hormone deficiency type II (IGHD II) and a new mutation in the GH 1 gene – an extremely unusual case

Genthner N , Blum W , Kamrath C , Wudy SA ,

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...

hrp0098p2-190 | Growth and Syndromes | ESPE2024

Rare Cases of Primary Hypoparathyroidism in Childhood in the Covid-19 Era

Vourdoumpa Aikaterini , Plessa Theodora , Paltoglou George , Amountza Georgia , Oikonomou Stavroula , N Maritsi Despoina , Soldatou Alexandra , N Tsolia Maria , Karavanaki Kyriaki

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...

hrp0098p2-313 | Late Breaking | ESPE2024

Correlation of Bone Health Index (BHI) and Metacarpal Index (MCI) with calcium metabolism parameters in children and adolescents

Ntova Maria , Chrysis Dionysios , Dermitzaki Eleni , N Michoula Aspasia , Christopoulos Panayiotis , Mastorakos George , N Grivea Ioanna , T Papadimitriou Dimitrios

Introduction: The assessment of bone maturation with artificial intelligence (AI) has introduced new straightforward indicators of bone health monitoring related the much more complex and expensive method of measuring bone density with DEXA (Dual-Energy X-Ray Absorptiometry). Bone Health Index (BHI) describes bone mass as a function of cortical thickness, width and length of the three middle metacarpals, using digital hand X-rays for bone age evaluation from D...

hrp0098p2-314 | Late Breaking | ESPE2024

Bone Health Index (BHI) and Metacarpal Index (MCI) in boys and girls on treatment with aromatase inhibitors

Piperidou Alexandra , Chrysis Dionysios , Dermitzaki Eleni , N Michoula Aspasia , Christopoulos Panayiotis , Mastorakos George , N Grivea Ioanna , T Papadimitriou Dimitrios

Third generation AIs have been repurposed as an off-label treatment in boys and girls, as they can retard closure of the epiphysial plate expanding the period of growth. Assessment of digital hand X-rays has introduced new follow-up indexes of bone health: Bone Health Index (BHI) from DICOM files describes bone mass as a function of cortical thickness, and Metacarpal Index (MCI) from digitized files expresses the cortical thickness standardized for the outer bone diameter at t...