hrp0097p2-114 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Tailored daily transdermal testosterone treatment before hypospadias surgical repairing: preliminary data of a single center study

Lucaccioni Laura , Insalaco Anna , Vandelli Sara , Ghidini Filippo , Trevisani Viola , F. Madeo Simona , Luca Ceccarelli Pier , Iughetti Lorenzo

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

hrp0095p1-144 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Precocious puberty and other pubertal disorders in females during the Italian lockdown and the coronavirus 2019 (COVID-19) pandemic

Stagi Stefano , Elisabeth Street Maria , Sartori Chiara , Ferrari Vittorio , Petraroli Maddalena , Messina Giulia , Lattanzi Claudia , Insalaco Anna , Gnocchi Margherita , Alberghi Francesca , Righi Beatrice , Buia Veronica , Lucaccioni Laura , Messa Federica , Varriale Gaia , Bencini Erica , Ricci Franco , Predieri Barbara , Iughetti Lorenzo

Background: At present few data have clearly showed an increased frequency of idiopathic central precocious puberty (CPP) in females during the COVID-19 pandemic. The role of environmental factors is not fully understood and various hypotheses have been formulated.Aims of the study: To evaluate retrospectively the incidence of newly diagnosed CPP and other pubertal disorders (Premature thelarche, early puberty, fast pube...

hrp0086s9.1 | Recent advances in congenital adrenal hyperplasia | ESPE2016

Long-term Health in Congenital Adrenal Hyperplasia: Lessons from a National Study

Nordenstrom Anna

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

hrp0086wg1.6 | ESPE Disorders of Sex Development Working Group (DSD) | ESPE2016

Fertility in Persons with DSD, Results From the dsd-LIFE Study

Nordenstrom Anna

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

hrp0086p2-p767 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Hypopituitarism in a Patient with 18p- Syndrome

Bolmasova Anna , Melikian Maria , Degtyareva Anna

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialistsÂ’...

hrp0094p2-327 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A case of a Floating-Harbor syndrome in a child with severe short stature.

Prosvirnina Anna , Bolmasova Anna , Melikyan Maria ,

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

hrp0095p1-54 | Diabetes and Insulin | ESPE2022

Relation between body weight and bone mineral density in type 1 diabetic patients

Ghubatyan Anna , Navasardyan Lusine

Objective(s): Type 1 Diabetes Mellitus (T1DM) is associated with poor bone health. It is shown that the increased fracture risk in T1DM is multifactorial. The aim of current study is to determine the body weight correlation with bone mineral density (BMD) in type 1 diabetic non-obese patients.Materials and Methods: To evaluate the factors associated with bone mineral density in type 1 diabetic patients a total of 45 pati...

hrp0084p2-209 | Bone | ESPE2015

Sclerostin and Its Associations with Energy Metabolism in Children and Adolescents

Wedrychowicz Anna , Starzyk Jerzy

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

hrp0086p2-p153 | Bone & Mineral Metabolism P2 | ESPE2016

Evaluation of ALP Value in Early Prediction of the Effects of Growth Hormone Treatment in Children with Growth Hormone Deficiency (GHD)

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

hrp0084p3-916 | GH & IGF | ESPE2015

Vitamin D Deficiency can Modulate GH/IGF1 Axis in GH Deficient Children

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...