hrp0086p1-p374 | Gonads & DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

hrp0086p1-p483 | Fat Metabolism and Obesity P1 | ESPE2016

The Effectiveness of a Stress Management Intervention Program in the Management of Overweight and Obesity in Childhood and Adolescence

Stavrou Stavroula , Nicolaides Nicolas C. , Papageorgiou Ifigeneia , Papadopoulou Pinelopi , Terzioglou Eleni , Darviri Christina , Chrousos George P. , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In addition to the increased consumption of calories and lack of exercise, accumulating evidence suggests that childhood obesity is strongly associated with prolonged and excessive activation of the stress system.Objective and hypotheses: The aim of our study was to assess the ...

hrp0086p2-p658 | Growth P2 | ESPE2016

Early Diagnosis and Treatment of a Newborn with POU1F1 Mutation

Bouthors Therese , Antoniou Marie-Christina , Dwyer Andrew , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

hrp0086p2-p787 | Pituitary and Neuroendocrinology P2 | ESPE2016

Giant Macroprolactinoma in a Female Adolescent – Case Report

Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Rotariu Daniel , Poeata Ion , Leustean Letitia

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

hrp0082fc4.4 | Growth | ESPE2014

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation due to Heterozygous Aggrecan Mutations

Nilsson Ola , Guo Michael , Dunbar Nancy , Popovic Jadranka , Flynn Daniel , Jacobsen Christina , Lui Julian , Hirschhorn Joel , Baron Jeffrey , Dauber Andrew

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...

hrp0082p3-d3-870 | Growth (4) | ESPE2014

Primary Amenorrhea with Normal Stature: Why Not Turner Syndrome?

Hristov Ioana , Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Leustean Letitia

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

hrp0082p3-d2-988 | Thyroid (1) | ESPE2014

Thyrotoxicosis in Childhood and Adolescents

Hreniuc Ana , Leustean Letitia , Bodescu Ioana , Hristov Ioana , Gherasim Simona , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Ungureanu Christina

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...

hrp0084p1-78 | Growth Hormone | ESPE2015

Influence of Genetic Variation on the Response to Recombinant Human Growth Hormone Treatment in Children with GH Deficiency: An Analysis of 13 Single Nucleotide Polymorphisms and the GH Receptor Exon 3 Deletion

Jung Anna-Maria , Hoffmann Paul Francois , Monz Dominik , Lissewski Christina , Schanze Denny , Zenker Martin , Rohrer Tilman Robert

Background: Growth hormone deficiency (GHD) is the most common endocrine cause of impaired growth. Recombinant human GH (rhGH) therapy does not always achieve complete catch-up growth or final height within the genetic target height despite standardised treatment guidelines. The factors causing the considerable variability in responsiveness to rhGH have not yet been fully elucidated. Apart from a number of auxological and clinical parameters, genetic factors also appear to pla...

hrp0084p1-162 | Miscelleaneous | ESPE2015

Congenital Hypothyroidism: Reduction in the Female to Male Ratio Following the Decrease of the TSH Cut-off Point Used for Neonatal Screening

Voutetakis Antonis , Giogli Vassiliki , Platis Dimitris , Gika Anna , Iliadi Alexandra , Mengreli Chrysanthi , Chrousos George , Kanaka-Gantenbein Christina , Girginoudis Panagiotis

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...