hrp0098p1-176 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche

Cattoni Alessandro , Russo Gianni , Capitoli Giulia , Rodari Giulia , Laura Nicolosi Maria , Molinari Silvia , Tondelli Daniele , Pelliccia Ciretta , Radaelli Silvia , Arosio Andrea , Fondata Katia , Tattesi Giulia , Passoni Paolo , Boneschi Annalisa , Giavoli Claudi , Laura Carla Meroni Silvia , Rita Stancampiano Marianna , Garuti Elda , Biondi Andrea , Balduzzi Adriana , Bizzarri Carla

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.<st...

hrp0095p2-252 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Premature ovarian failure in two female patients with 47, XXX karyotype

Halvadzhiyan Irina , Mladenov Wilchelm , Elkina Stanimira , Yordanova Nikolinka , Petrova Chaika , Kovacheva Katia , Boyadzhiev Veselin , Iotova Violeta

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

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...

hrp0095p2-262 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analyze of clinical, biological and therapeutic aspects of 46 XY DSD

Iabbassen Malek , Bensalah Meriem , Brahimi Hanane , Benabdellatif Katia , Sellal Zoubir , Zahaf Hamid , Mouloud Benaired Amine , Choutri Hichem , Khadidja Ouldkablia Samia

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

hrp0084p2-222 | Bone | ESPE2015

Bone Density, HIV Infection and Antiretroviral Treatment: A 10-Year Follow-Up in Young Patients

Mora Stefano , Maruca Katia , Ambrosi Alessandro , Puzzovio Maria , Erba Paola , Nannini Pilar , Benincaso Annarita , Capelli Silvia , Giacomet Vania

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

hrp0082p2-d3-354 | Diabetes (2) | ESPE2014

An Infant with a Novel Kir6.2 Mutation Causing Neonatal Diabetes and Unexplained Lack of Response to Sulphonylurea

O'Connell Susan M , Mc Donald Aoife , O'Toole Norma , Bradfield Anne , Bradley Maura , Hattersley Andrew , Ellard Sian , Proks Peter , Mattis Katia K , Ashcroft Frances , O'Riordan Stephen M P

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...