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hrp0094p2-310 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Ciancia Silvia , Madeo Simona F. , Cattini Umberto , Bruzzi Patrizia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

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hrp0095p2-175 | Growth and Syndromes | ESPE2022

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

Righi Beatrice , Rosato Simonetta , Trimarchi Gabriele , Cattini Umberto , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

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ESPE Abstracts

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

BiosciAbstracts