hrp0082p1-d3-50 | Bone (1) | ESPE2014

Genetic Study of Osteogenesis Imperfecta: Two Novel Mutations in COL1A1 and COL1A2

Castro-Feijoo Lidia , Loidi Lourdes , Quiroga Nuria , Cabanas Paloma , Heredia Claudia , Leis Rosaura , Barros Francisco , Pombo Manuel , Barreiro Jesus

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...

hrp0082p1-d1-105 | Fat Metabolism & Obesity | ESPE2014

Being Overweight During the Peripubertal Period Modifies the Leptin Induced Changes in Hypothalamic Neuropeptides Involved in Metabolism but not those Involved in Pubertal Onset

Castro-Gonzalez David , Fuente-Martin Esther , Sanchez-Garrido Miguel A , Argente-Arizon Pilar , Tena-Sempere Manuel , Chowen Julie A , Argente Jesus

Background: Leptin is suggested to be a permissive factor in the onset of puberty by signaling at the level of the hypothalamus to indicate adequate energy stores. Overweight female rats due to increased neonatal nutrition have been shown to develop puberty before normal weight rats.Objective and hypothesis: We hypothesized that this permissive effect may be due not only to increased leptin levels, but also to increased hypothalamic sensitivity to this h...

hrp0084p2-185 | Adrenals | ESPE2015

Severe Craniosynostosis Syndrome Associated to Salt Wasting Congenital Adrenal Hyperplasia

Beltrao Luciana Amorim , Apolinario Elisa Cordeiro , Costa Liana Capelo , Lozovei Yve , Castro Simone Martins , Rosa Rafael Fabiano Machado , Kopacek Cristiane

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

hrp0097p1-192 | Thyroid | ESPE2023

Remission in pediatric hyperthyroidism treated with methimazole

Ricci Jaime , Castro Bethania , Sabino Franco , Fasano Victoria , Tournier Andrea , Balbi Viviana , González Verónica , Morin Analía

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

hrp0098p1-175 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Current Practice of Managing Hypogonadotropic Hypogonadism in Male Infants during Minipuberty – an International Survey

Laurer Elisabeth , Rohayem Julia , Heger Sabine , Hoegler Wolfgang , Castro Sebastian , Rey Rodolfo , Nordenström Anna , Howard Sasha

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses t...

hrp0092fc13.1 | Adrenals and HP Axis | ESPE2019

Peptide MC2R Antagonists as a New Potential Therapeutic Approach for Congenital Adrenal Hyperplasia

Schubert Tina , Nicke Lennart , Schanze André , Reisch Nicole , Geyer Armin , Koehler Katrin , Huebner Angela

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...

hrp0089p2-p256 | Growth & Syndromes P2 | ESPE2018

Bone Mineral Density and Body Composition of Young Adults Who Were Born Small for Gestational Age and Treated with Growth Hormone, after Treatment Completion

Ascaso Matamala Angela , Trujillano Lidon Laura , Calero Polanco Angelica , Matute-Llorente Angel , Bueno Lozano Gloria

Background: Small for gestational age (SGA) children are at increased risk of metabolic syndrome in adulthood and have below-average bone mineral density (BMD). Growth hormone treatment reduces fat mass and insulin sensitivity, increases lean body mass and improves height and BMD in short SGA children. We aimed to evaluate changes in body composition in SGA patients treated with growth hormone (GH), after its cessation, compared with young adults born appropriate for gestation...

hrp0089p1-p199 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Growth Hormone Deficiency and Cryptorchidism in a Family with Xq26.3 Duplication and Position Effect on SOX3

Reschke Felix , Jahn Arne , Tzschach Andreas , Schallner Jens , Hagen Maja von der , Huebner Angela

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

hrp0086p2-p418 | Gonads & DSD P2 | ESPE2016

Phenotype, Genotype and Gender Identity in Pubertal and Post-Pubertal Patients with Androgen Insensitivity Syndrome

Shabir Iram , Khurana Madan , Joseph Angela , Eunice Marumudi , Mehta Manju , Ammini Ariachery

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

hrp0086p2-p934 | Thyroid P2 | ESPE2016

Thyroid Function in Children Affected By Congenital Hypothyroidism (CH) with Eutopic Thyroid After Discontinuation of Treatment with Levothyroxine

Poggi Elena , Gastaldi Roberto , Muraca Monica , Perri Katia , Pistorio Angela , Maghnie Mohamad

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...