hrp0097p1-335 | Multisystem Endocrine Disorders | ESPE2023

High yield of genetic testing in various endocrine disorders

Shefer Averbuch Noa , Orenstein Naama , Phillip Moshe

Background: A specialized endo-genetic service was established in our clinic in January 2018. The service is multi-disciplinary and includes not only endocrinologists but also other physicians from different fields (e.g urology, orthopedics, imaging), nursing staff, psychologists, social workers, dieticians, genetic laboratories and bioinformaticians. The service is now run by a board-certified physician in both pediatric endocrinology and medical genetics.</p...

hrp0095p1-134 | Growth and Syndromes | ESPE2022

Applying personalized medicine- From a unique endo-genetic clinic to a national project of certifying endocrinologists to perform genetic consults and testing

Shefer Averbuch Noa , Orenstein Naama , Greenberg Rotem , Ben-Shachar Shay , Phillip Moshe

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...

hrp0092p2-267 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

An Intriguing Co-Occurrence of MURCS and VACTERL Association: A Case Report and Review of the Literature

Averbuch Noa Shefer , Shvalb Naama Fisch , Nimri Revital , Phillip Moshe , Orenstein Naama

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...