hrp0092p2-13 | Adrenals and HPA Axis | ESPE2019

Different Potent Glucocorticoids, Different Routes of Exposure but The Same Result: Iatrogenic Cushing's syndrome and Adrenal Insufficiency

Güven Ayla

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...

hrp0092p3-243 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiologic Classification of 46, XY Disorders of Sexual Differentiation According to Chicago Consensus: Single Center Results

Güven Ayla

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

hrp0092p3-7 | Adrenals and HPA Axis | ESPE2019

Rare Case of Cortisol Producing Tumour in 14 Years Old Girl

Gärskog Helena , Mattsson Mattias , Lundberg Elena

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

hrp0092p3-220 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Rare Cause of SRY (-) 46, XX DSD: Aromatase Deficiency

Buğrul Fuat , Güran Tülay

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

hrp0086p2-p646 | Growth P2 | ESPE2016

Metabolic Parameters and Glucose Homeostasis in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , McMillan M , Ahmed S F , Shaikh M G

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

hrp0082fc14.4 | Puberty | ESPE2014

Development of Pubertal Gynaecomastia: a Longitudinal Cohort Study

Mieritz Mikkel G , Hagen Casper P , Juul Anders

Background: Pubertal gynaecomastia (PG) is considered a clinical sign of an oestrogen–androgen imbalance at the breast tissue level although little evidence exists. PG occurs in 40–60% of adolescent Caucasian boys, and in most cases however, no underlying endocrinopathy can be identified. Very few longitudinal studies on PG exist.Objective and method: As a part of the longitudinal COPENHAGEN Puberty Study we followed 110 healthy Danish boys (ag...

hrp0084p3-939 | GH & IGF | ESPE2015

Increasing Lean Body Mass, Phase Angle, and Total Body Water But Decreasing Body Fat Among Short-statured Children Born Small-for-Gestational Age on GH Treatment

Volkl Thomas M K , Stumpf Isabel , Dorr Helmuth-G

Background: There is a small proportion of children born SGA without postnatal catch-up growth who are presented with persistent short stature, low BMI, and decreased lean body mass (LBM). Data on body composition are rarely reported in the literature. Our study addresses the question whether human recombinant GH treatment could affect body composition in these SGA children or not.Design: We included 58 SGA children (n=20 females) with SGA (birt...

hrp0092p2-169 | GH and IGFs | ESPE2019

Experience of Growth Hormone Therapy in Two Cases with Congenital Adrenal Hypoplasia

Suman Gök Ebru , Direk Gül , Uzan Tatli Zeynep , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...