Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

por Lao, Qizong, Merke, Deborah P.
Publicado 2021

Management challenges and therapeutic advances in congenital adrenal hyperplasia

por Mallappa, Ashwini, Merke, Deborah P.
Publicado 2022

SAT290 Course of SARS-CoV-2 Infection In Patients With Congenital Adrenal Hyperplasia

por Javaid, Rida, Kollender, Sarah, Moon, Amy, Merke, Deborah P
Publicado 2023

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum

por Maher, Jacqueline Yano, Gomez-Lobo, Veronica, Merke, Deborah P.
Publicado 2022

Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased (18)F-FDG Positron Emission Tomography Uptake

por Mallappa, Ashwini, Millo, Corina M., Quezado, Martha, Merke, Deborah P.
Publicado 2017

Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy

por Dagalakis, Urania, Mallappa, Ashwini, Elman, Meredith, Quezado, Martha, Merke, Deborah P.
Publicado 2016

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

por Lao, Qizong, Zhou, Kiet, Parker, Megan, Faucz, Fabio R., Merke, Deborah P.
Publicado 2023

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

por Lao, Qizong, Burkardt, Deepika D., Kollender, Sarah, Faucz, Fabio R., Merke, Deborah P.
Publicado 2023

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

por Jha, Smita, El-Maouche, Diala, Marko, Jamie, Mallappa, Ashwini, Veeraraghavan, Padmasree, Merke, Deborah P
Publicado 2019

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

por Kolli, Vipula, Kim, Hannah, Rao, Hamsini, Lao, Qizong, Gaynor, Alison, Milner, Joshua D., Merke, Deborah P.
Publicado 2019

MON-171 Characterization of the Adrenal Gland and Adrenal Rest Tissues in Congenital Adrenal Hyperplasia

por Kolli, Vipula, Werneck, Isabela, Kim, SunA, Mallappa, Ashwini, Gaynor, Alison, Quezado, Martha, Merke, Deborah P
Publicado 2020

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

por Lao, Qizong, Mallappa, Ashwini, Rueda Faucz, Fabio, Joyal, Elizabeth, Veeraraghavan, Padmasree, Chen, Wuyan, Merke, Deborah P.
Publicado 2020

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management

por Sarafoglou, Kyriakie, Merke, Deborah P, Reisch, Nicole, Claahsen-van der Grinten, Hedi, Falhammar, Henrik, Auchus, Richard J
Publicado 2023

SAT288 Development Of CAH-specific Patient Reported Outcome (PRO) Instrument To Assess Health-related Quality Of Life (HRQoL)

por Flokas, Myrto Eleni, Yang, Li, Middleton, Kimberly, Persky, Rebecca W, Kollender, Sarah, Parker, Megan, Merke, Deborah P
Publicado 2023

Androgens correlate with increased erythropoiesis in women with congenital adrenal hyperplasia

por Karunasena, Nayananjani, Han, Thang S., Mallappa, Ashwini, Elman, Meredith, Merke, Deborah P., Ross, Richard J.M., Daniel, Eleni
Publicado 2016

MON-158 Rates of Illnesses in Patients with Congenital Adrenal Hyperplasia

por Mallappa, Ashwini, Sinaii, Ninet, El-Maouche, Diala, Veeraraghavan, Padmasree, Joyal, Elizabeth, Hargreaves, Courtney J, Merke, Deborah P
Publicado 2020

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

por Hannah-Shmouni, Fady, Morissette, Rachel, Sinaii, Ninet, Elman, Meredith, Prezant, Toni R, Chen, Wuyan, Pulver, Ann, Merke, Deborah P
Publicado 2017

SUN-037 Discordant Serum 17-hydroxyprogesterone and Androstenedione in the Management of Congenital Adrenal Hyperplasia: Are 11-oxygenated Androgens Useful?

por Jha, Smita, Turcu, Adina F, Sinaii, Ninet, Brookner, Brittany, Veeraraghavan, Padmasree, Mallappa, Ashwini, Auchus, Richard Joseph, Merke, Deborah P
Publicado 2020

ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS

por Zenno, Anna, Cohen, Andrea, Babcock, Holly, Moon, Amy, Santhanam, Prasanna, Desai, Jay, Joyal, Elizabeth, Manoli, Irini, Merke, Deborah P
Publicado 2022

SUN-LB4 Androgenic Profiles of Patients With Severe Insulin Resistance

por Jha, Smita, Turcu, Adina, Brookner, Brittany, Abel, Brent Samuel, Startzell, Megan, Auchus, Richard Joseph, Brown, Rebecca J, Merke, Deborah P
Publicado 2020