hrp0086p2-p416 | Gonads & DSD P2 | ESPE2016

Cytogenetic Variability and Phenotypic Findings in Patients with Ovotesticular Disorder of Sex development

Mekkawy Mona , Mazen Inas , kamel Alaa , Mohamed Amal , El Dessouky Nabil

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

hrp0086p2-p417 | Gonads & DSD P2 | ESPE2016

Cytogenetic Study of Sex Chromosomal Abnormalities in Egyptian DSD Patients

Mazen Inas , Kamel Alaa , Mekkawi Mona , El aidy Aya

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

hrp0082p2-d1-459 | Growth | ESPE2014

Comparison Between GH assay: serum GH Cut-off Levels by ECLIA Performed in Pharmacological Estimulation Tests in Children With Short Stature

Aguirre Cecilia , Sobrero Gabriela , Schvab Giselle , Silvano Liliana , Alvarez Julia , Ochetti Mariana , Lescurat Maria , Paez Alejandra , Munoz Liliana , Martin Silvia , Miras Mirta

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

hrp0084p1-141 | Turner & Puberty | ESPE2015

Adult Height after Growth Hormone Treatment and its Association with X Chromosome Dosage in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Fiot Elodie , Zenaty Delphine , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Leger Juliane , FrenchTurner Syndrome Study Group

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

hrp0097p2-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

SRY-positive 45, X male with monoorchism and hypospadias

Orbak Zerrin , Demir Busra , Yüce Kahraman Çiğdem , Fırıncı Binali

A rare case of a 4-year-old boy with a SRY-positive 45, X karyotype was presented. Family history of the child was not remarkable. His height and weight were -2.1 SD and -1.4 SD, respectively. Physical examination revealed a well-developed penis with hypospadias. His right testis was in the scrotum and the left testis was not palpable. In previous inguinal exploration recordings, unilateral testicular agenesis on the left side were noted. The right testis was biopsied and prep...

hrp0095p1-266 | Fat, Metabolism and Obesity | ESPE2022

Changes in hypothalamic functional connectivity in the brain following childhood-onset craniopharyngioma

Hinton Elanor , Elsworth Rebecca , Bedford Holly , Hawton Katherine , Narayan Kruthika , Naeem Nimra , Elson Ruth , Taylor-Miller Tashunka , Lithander Fiona , Hamilton-Shield Julian , Crowne Elizabeth

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

hrp0095p1-525 | Growth and Syndromes | ESPE2022

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

Auerbach Adi , H Korman Stanley , Jaron Ranit , Peled Segel Reeval , D Wexler Isaiah , Avraham Zehavi , Claire King Mary , Rosenfeld Nuphar , Levy-Lahad Ephrat , Abu-Libdeh Abdulsalam , H Zangen David , Levy- Khademi Floris

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

hrp0095p1-552 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Final adult height in children with central precocious puberty – a retrospective study

Knific Taja , Lazarevič Melisa , Žibert Janez , Obolnar Nika , Aleksovska Nataša , Šuput Omladič Jasna , Battelino Tadej , Avbelj Stefanija Magdalena

Background: Central precocious puberty (CPP) is a premature activation of the hypothalamic-pituitary-gonadal axis. One of its negative effects is lower final adult height (FAH) due to premature epiphyseal closure. GnRH analogues act by desensitizing GnRH receptors and stopping the progression of puberty and prolonging growth period.Objectives: We aimed to evaluate the effect of the GnRH analogue on FAH and identify facto...

hrp0095p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

Požgaj Šepec Marija , La Grasta Sabolić Lavinia , Karnaš Helena , Stipoljev Feodora , Stipančić Gordana

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

hrp0095p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Case Report of Familial X-Linked Hypopituitarism, without Confirmed Genetic Mutation

Dilanyan Lilit , Aghajanova Elena , Markosyan Renata

Introduction: Hypopituitarism is the partial or complete insufficiency of a single or multiple pituitary hormones. The clinical manifestation of hypopituitarism varies depending on the number and severity of hormone deficiencies. Familial cases are rare, compared to the sporadic ones. Its estimated incidence is between 1:4000-1:10000 live births.Case report: We report the clinical case of familial hypopituitarism in a fa...