hrp0092rfc13.1 | Adrenals and HP Axis | ESPE2019

Children and Adolescents in the United States with Congenital Adrenal Hyperplasia are not at Increased Risk for Attention-Deficit/Hyperactivity Disorder

Harasymiw Lauren , Grosse Scott , Sarafoglou Kyriakie

Background: Congenital adrenal hyperplasia (CAH) is a rare form of adrenal insufficiency characterized by impaired cortisol synthesis leading to excessive adrenal androgen production. Little is known regarding the effects of early and chronic androgen exposure in children with CAH, and whether this exposure may increase the risk of developing attention-deficit/hyperactivity disorder (ADHD) during childhood. The only study on the subject, based on a small sampl...

hrp0089rfc15.5 | Growth and syndromes | ESPE2018

Effect of Adjusting for Tanner Stage Age on Short and Tall Stature Prevalence in US Youths

Addo O Yaw , Sarafoglou Kyriakie , Miller Bradley

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

hrp0095rfc5.2 | Adrenals and HPA Axis | ESPE2022

Case Series: Anastrozole Monotherapy for Non-Classic Congenital Adrenal Hyperplasia

Sandy Liu , Malavika Suresh , Mutaz Jaber , Kyriakie Sarafoglou

Background: Non-classic congenital adrenal hyperplasia (NC-CAH) is caused by pathogenic variants of the CYP21A2 gene, and in most cases is not associated with cortisol deficiency as is the classic (severe) form. The majority of children with NC-CAH are asymptomatic and do not require cortisol replacement therapy with hydrocortisone unless they develop symptoms of hyperandrogenemia such as early pubarche, growth acceleration, advanced bone age, and ultimately s...

hrp0095fc5.4 | Adrenals and HPA Axis | ESPE2022

Reference Growth Charts in Children with Congenital Adrenal Hyperplasia

Sarafoglou Kyriakie , Miller Bradley , Munoz Yesica , Jaber Mu'taz , Yaw Addo O.

Introduction: Adult height in individuals with Congenital Adrenal Hyperplasia (CAH) is reduced compared to the general population as their growth during childhood can be negatively impacted by both the disease and its treatment. Excess production of androgens through aromatization to estrogens can accelerate height velocity and skeletal maturity, and lead to short stature if not adequately suppressed. Over suppression of adrenal steroids through excess glucoco...

hrp0094p1-4 | Adrenal A | ESPE2021

Depression among insured children and young adults in the United States with congenital adrenal hyperplasia

Harasymiw Lauren , Grosse Scott , Cullen Kathryn , Bitsko Rebecca , Perou Ruth , Sarafoglou Kyriakie ,

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

hrp0097p1-326 | Growth and Syndromes | ESPE2023

Sex Non-Specific Growth Charts and Potential Clinical Implications in the Care of Transgender Youth and Rare Disease Populations

Bomber Eric , Golob Laura , Miller Bradley , Addo Yaw , Rogol Alan , Jaber Mutaz , Sarafoglou Kyriakie

Background: Although Centers for Disease Control and Prevention (CDC) and World Health Organization growth charts, dichotomizing “girls versus boys,” are commonly used, scenarios exist where this binary approach may not be ideal. These scenarios include care for transgender youth undergoing transitions, non-binary youth, and rare diseases where sex-specific growth chart creation is impractical. There is a need for growth charts and z-score calculat...

hrp0097fc14.1 | Late Breaking | ESPE2023

Sleep health characteristics in children with congenital adrenal hyperplasia

Golob Laura , Liu Wenxi , Mercado-Munoz Yesica , Singh Anvita , Hodges James , Siegel Lianne , Morero Helena , Gao Zan , Simon Stacey , Sarafoglou Kyriakie

Introduction: Cortisol secretion is circadian-driven and plays a significant role in sleep quality. In children with congenital adrenal hyperplasia (CAH) hydrocortisone is the preferred treatment. Hydrocortisone has a short half-life producing alternating hyper- and hypocortisolemia, a non-physiologic cortisol profile, likely disrupting sleep. However, minimal literature exists on sleep health in children with CAH.Objective:</str...

hrp0097fc1.4 | Adrenals and HPA Axis | ESPE2023

Response to Crinecerfont Treatment in Adolescents with Classic Congenital Adrenal Hyperplasia Is Correlated with Elevated Baseline Hormone Concentrations but Not Glucocorticoid Dose

Ron S. Newfield , Sarafoglou Kyriakie , Y. Fechner Patricia , J. Nokoff Natalie , J. Auchus Richard , G. Vogiatzi Maria , S. Jeha George , Giri Nagdeep , Roberts Eiry , Sturgeon Julia , L. Chan Jean , H. Farber Robert

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...