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Simpson–Golabi–Behmel syndrome in a 39‐year‐old male patient with suspected acromegaly—A case study
Author(s) -
AndrysiakMamos Elżbieta,
Sagan Karol Piotr,
LietzKijak Danuta,
Kijak Edward,
Kaźmierczak Beata,
Pietrzyk Aleksandra,
SowinskaPrzepiera Elżbieta,
Sagan Leszek,
Syrenicz Anhelli
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61013
Subject(s) - sotos syndrome , acromegaly , medicine , cyst , population , pediatrics , short stature , pathology , growth hormone , hormone , environmental health
Abstract Simpson–Golabi–Behmel syndrome (SGBS) is a rare genetic condition and is inherited in an X‐linked recessive manner. The disease is caused by a change in the nucleotide sequence of an X‐linked gene encoding glypican 3, a protein belonging to the heparan‐sulfate membrane proteoglycan family. SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may be due to both the high mortality of SGBS patients in childhood and low rate of SGBS diagnosis in adults. We present a case of a 39‐year‐old man with an initial diagnosis of acromegaly. Genetic tests revealed a hitherto unreported deletion in the GPC3 gene. SGBS manifestations in our patient included tall stature, dysmorphic features, and central nervous system (CNS) anatomical pathology. MRI of the head visualized abnormalities of median line structures, a feature consistent with SGBS: an unclosed craniopharyngeal canal, a sellar‐suprasellar cyst, dysmorphic pituitary gland, and a cyst of the septum pellucidum. Moreover, cardiomyopathy complicated by life‐threatening paroxysmal ventricular tachycardia was diagnosed. Although various cardiac anomalies are often found in SGBS, their pathogenesis is unclear and may be multifactorial. We believe that the presented case contributes to a better understanding of SGBS and may help clinicians in introducing prophylaxis and treatment for its comorbidities.