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hrp0095rfc5.6 | Adrenals and HPA Axis | ESPE2022

The unique methylation pattern of a rare Bilateral para-overian Adrenal Rest Tumor in a girl with severe virilization and Nicotinamide Nucleotide Transhydrogenase mutation

Cahn Ranit , Berman Ben , Bauman Dvorah , Mendelson Espen , Abulibdeh Abdulsalam , Florsheim Natan , Zangen David

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit...

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hrp0098p2-396 | Late Breaking | ESPE2024

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

Florsheim Natan , Cohen Amitay , Abu-Libdeh Abdulsalam , Naugolni Larisa , Landau Zohar , Mendelson Espen , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Ovarian Dysgenesis (OD) is a rare genetically heterogeneous XX Disorder of Sex Development. It presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel genetic causes of OD, we are investigating families with one or more patients diagnosed with OD.Methods: Using a patient-based approach, WES was per...

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ESPE Abstracts

The unique methylation pattern of a rare Bilateral para-overian Adrenal Rest Tumor in a girl with severe virilization and Nicotinamide Nucleotide Transhydrogenase mutation

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

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