hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0089p3-p246 | Growth & Syndromes P3 | ESPE2018

Microduplication of 3p25.3 and 4p23 Regions in a Patient with Multiple Congenital Anomalies, Congenital Hypothyroidism and Adrenogenital Syndrome

Barreca Massimo , Scavone Maria , Giancotti Laura , Colao Emma , Miniero Roberto

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

hrp0089p2-p334 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Hypertension During GNRH Analogues Therapy in a 10-year-old Girl

Barreca Massimo , Carboni Elena , Scavone Maria , Giancotti Laura , Miniero Roberto

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

hrp0089p2-p369 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of Initial Investigation Requested in Adolescents with Menstrual Disorders

Charamanta Maria , Michala Lina , Drakakis Peter , Yasmin Ephia , Creighton Sarah

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

hrp0089p2-p380 | Thyroid P2 | ESPE2018

Celiac Disease Screening Should be Routinely Offered in Pediatric Population with Autoimmune Thyroid Disease

Resta Maria , Triantafyllou Panagiota , Agakidis Charalampos , Maliachova Olga , Christoforidis Athanasios

Background and Hypothesis: Autoimmune thyroid disorders (AITD), including Hashimoto’s Thyroiditis (HT) and Grave’s disease (GD), are known to cluster with other autoimmune disorders (AID). There seem to exist both a pathophysiological basis of immunomodulator genes and epidemiological indications of a higher prevalence of AID including Celiac disease (CeD) in patients with AITD, compared to that in the healthy pediatric population. CeD is asymptomatic in a large prop...

hrp0086fc3.5 | Pituitary | ESPE2016

Septo-optic Dysplasia Spectrum: Pubertal Features of a Large Cohort of Children and Adolescents with Septo-optic Dysplasia, Congenital Hypopituitarism and Optic Nerve Hypoplasia from a Single Centre

Cerbone Manuela , Guemes Maria , Improda Nicola , Dattani Mehul T

Background: Children with septo-optic dysplasia (SOD) and related disorders can present with either hypogonadotropic hypogonadism or precocious puberty. This phenotypic variability remains unexplained.Objective and hypotheses: To compare pubertal characteristics of SOD with isolated congenital hypopituitarism (CPHD) and optic nerve hypoplasia (ONH).Method: Retrospective longitudinal data collection from 259 patients with: SOD (...

hrp0086p1-p29 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in Patient with X-Linked Adrenoleukodystrophy

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

hrp0086p2-p50 | Adrenal P2 | ESPE2016

Ovarian Cysts in a 46,XX Patient with Congenital Lipoid Adrenal Hyperplasia and with Spontaneous Puberty

Kopylova Irina , Orlova Elizaveta , Yarovaya Irina , Kareva Maria , Peterkova Valentina

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

hrp0086p1-p243 | Diabetes P1 | ESPE2016

Associated and Familial Autoimmunity in Children and Adolescents with Type 1 Diabetes Mellitus

Papadopoulou Martha , Kallinikou Dimitra , Louraki Maria , Foteinou Aspasia , Karavanaki Kyriaki

Background: Type 1 Diabetes Mellitus (T1DM) often coexists with other autoimmune diseases, either individually or as a part of polyendocrine syndrome (APS I-III). It is frequently associated with autoimmune thyroid, celiac, gastric and Addison’s disease. In the families with T1DM patients frequently coexist different autoimmune diseases (familial autoimmunity).Objective and hypotheses: Evaluating the frequency of associated and familial autoimmunity...

hrp0086p2-p491 | Fat Metabolism and Obesity P2 | ESPE2016

Anthropometric, Biological and Imagistical Methods For Assessing the Cardiovascular Risk in Obese Children

Stroescu Ramona , Bizerea Teofana , Lesovici Maria , Marazan Monica , Marginean Otilia

Background: Pediatric obesity has increased worldwide over the last decades, being diagnosed at ever-younger ages.Objective and hypotheses: Evaluation of clinical and biological parameters and changes that occur in children with obesity; metabolic syndrome (MetS) identification in the studied groups; identification, evaluation, analysis and correlation of the adipogenic factors with the carotid intima media thickness (CIMT).Method:...