hrp0094p2-26 | Adrenals and HPA Axis | ESPE2021

Testicular adrenal rest tumour in children with classical congenital adrenal hyperplasia: A case series.

Peng Cheng Hooi , Sze Lyn Wong Jeanne , Suffian Hassim Mohamad , Arliena Mat Amin Noor , Selveindran Nalini M , Guang Gan Cheng , Teik Teoh Sze , Anand L Alexis , Hua Hong Janet Yeow ,

Introduction: Testicular adrenal rest tumour (TART) is a complication in males with congenital adrenal hyperplasia (CAH). However, the prevalence, risk factors and treatment in children are not clear.Objective: 1) To identify the incidence of TART and risk factors in patients with classical CAH in our centre 2) To study the clinical characteristics, hormonal profile, treatment interventions and outcome of patients with T...

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

Kağızmanlı Akın , Besci Özge , Yüksek Acinikli Kübra , Şeker Gül , Yaşar Elif , Öztürk Yeşim , Demir Korcan , Böber Ece , Abacı Gözde Ayhan

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...

hrp0086p1-p803 | Syndromes: Mechanisms and Management P1 | ESPE2016

Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index

Fletcher A , McVey L , Guaragna-Filho G , Hunter L , Lemos-Marinia SHV , Santoro RI , Mason A , Wong SC

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

hrp0082p3-d1-632 | Adrenals & HP Axis | ESPE2014

Secondary Pseudohypoaldosteronism Type 1: the Role of a Urinary Steroid Profile

Grace M L , Murray D M , Joyce C , Taylor N F , Ghataore L , O'Connell S M

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

hrp0086wg1.2 | ESPE Disorders of Sex Development Working Group (DSD) | ESPE2016

The Brain as a Target for Sex Steroids: Recent Trends in Endocrine Neuroimaging

Mueller Sven

Background: Sex hormones organize brain structure and function, particularly early in life. Endocrine neuroimaging offers the opportunity to assess the impact of sex hormones but also genetic contributions on structural neuroanatomy and neurocognitive-affective function in disorders of sexual development (DSD). This may be particularly relevant from a psychopathological perspective of how such neural changes contribute to mood and anxiety disorders frequently observed in DSD.<...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

hrp0092rfc13.2 | Adrenals and HP Axis | ESPE2019

Development of Novel Non-Invasive Strategies for Monitoring of Treatment Control in Patients with Congenital Adrenal Hyperplasia

Bacila Irina-Alexandra , Adaway Jo , Hawley James , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriakou Andreas , Schiffer Lina , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S Faisal , Keevil Brian , Krone Nils P

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...

hrp0095p1-145 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spatial navigation and memory in transgender male adolescents treated with gender affirming hormones

Perl Liat , Oren Asaf , C. Mueller Sven , Raphael Ido , Borger Ophir , Sheppes Tamar , Shechner Tomer

Background: Spatial navigation is an essential human skill that helps individuals track their changes in position and orientation by integrating self-motion cues. Meta-analyses indicate that males, on average, perform better than females on a number of spatial tasks. Sex steroids, mainly androgens, modulate the remodeling of synapses in the prefrontal cortex and hippocampus, a limbic brain area with critical influence on spatial and contextual memory. Androgen...

hrp0092p1-60 | Fat, Metabolism and Obesity | ESPE2019

The Effect of Improved Metabolic Risk Factors and Metformin Therapy on Circulating Hepatokines in Obese, Insulin-Resistant Adolescents

Kilinç Suna , Kirankaya Aysegül , Atay Zeynep

Introduction: The molecular mechanisms underlying insulin resistance (IR) is complex and has not been fully elucidated yet. The experimental studies point out the role of liver-derived proteins, called hepatokines.Aims: To compare metabolic parameters and hepatokines levels in obese adolescents and healthy controls and to assess the effect of metformin therapy on plasma hepatokines levels in obese, insulin-resistant adol...