hrp0084p3-796 | DSD | ESPE2015

Tumours of Gonads in Patients with Disorders of Sex Development – 46,XY Gonadal Dysgenesis

Latyshev Oleg , Samsonova Lubov , Okulov Alexey , Kiseleva Elena , Okmynuan Guar

Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier s...

hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0084p3-808 | DSD | ESPE2015

Characteristic of Children with Mixed Gonadal Dysgenesis

Akulevich Natallia , Makarava Yulia , Khmara Irina , Solntseva Anzhalika

Background: Mixed gonadal dysgenesis (MGD) is a DSD with variations of 45,X/46,XY caryotype and different phenotype.Objective and hypotheses: To describe the features of six patients (three raised as boys and three as girls).Method: The mean patientsÂ’ age at the time of the report is 11.7±4.0 years old. Molecular diagnosis was made in utero and confirmed after birth in two boys (for maternal age and because one mother had...

hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0094p1-38 | Fat, Metabolism and Obesity A | ESPE2021

Are Serum Spexin Levels Associated With Metabolic Syndrome Antecedents In Obese Adolescents?

Gulderen Kalay Şenturk Nida , Cakır Aydilek Dağdeviren , Yıldırmak Zeynep Yıldız , Ucar Ahmet ,

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...

hrp0094p2-418 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46 XX, SRY negative testicular DSD presenting with VACTERL Syndrome

Suntharesan Jananie , Gunasekara Budhi , Lakmini Chamila , De Silva Uamd , Navoda Atapattu

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

hrp0094p2-271 | Growth hormone and IGFs | ESPE2021

Linear growth of prepubertal children born small for gestational age on growth hormone therapy for 3 years

Al Shaikh Adnan , Daftardar Hadeer , Aziz Alghamdi Abdul , Jamjoom Majd , Awidah Saniah , Ahmed Mohamed E , Soliman Ashraf ,

Introduction: Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. However, some children ...

hrp0094p2-324 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia: A Case Report and Literature Review

Wang Yirou ,

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect childrenÂ’s growth and development through different endocrine hormone metabolic dysfunction.Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weigh...

hrp0094p2-378 | Pituitary, neuroendocrinology and puberty | ESPE2021

The effect of 3 years of Gonadotropin-Suppressive Therapy in Girls with Early Puberty: Height Z Score in Relation to Mid-Parental height Z score.

Alaaraj Nada , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia ,

Introduction: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

hrp0097p1-5 | Adrenals and HPA Axis | ESPE2023

Glucose profiles of children with classical congenital adrenal hyperplasia: lesson from continuous glucose monitoring

Nguyen Quoc Adrien , Galderisi Alfonso , Kariyawasam Dulanjalee , Stoupa Athanasia , Pinto Graziella , Viaud Magali , Brabant Severine , Beltrand Jacques , Polak Michel , Samara-Boustani Dinane

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...