Endocrine Dysfunction in Patients with Fabry Disease

Abstract

A variety of latent endocrine dysfunctions, including life-threatening conditions, occur in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related to their persistent poor quality of life. An endocrine work-up should be recommended in all FD patients. Adequate monitoring and hormonal therapy, when required, have to be performed in cases of subclinical endocrine dysfunction to avoid life-threatening events.

Azoospermia as a new feature of Fabry disease

“…In the literature, there is only one reference to infertility in Fabry disease: asthenoteratozoospermia was described in two brothers suffering from Fabry disease (9). Recently, oligozoospermia was described in 4 out of 4 men with Fabry disease (13). Our study is the first to report azoospermia.…”

Pituitary function and morphology in Fabry disease

“…In a previous report, we showed no major pituitary dysfunction in FD [4]. When excluding patients under hormone replacement treatments, levels of TSH, basal and stimulated cortisol did not differ between FD and controls.…”

“…In particular, it seems that systems and organs with a low proliferation rate and a high vascularization are more likely to constitute targets for intra-lysosomal substrate accumulation. Accordingly, we already showed subtle impairment in thyroid and adrenal function in FD [4], but no studies to date focused on the pituitary.…”

“…Hormone levels were determined as previously reported [4]. Blood samples were taken between 08.00 and 09.00.…”

“…These deposits often determine morphological changes because of architectural disarrangement with subsequent functional impairment. Endocrine system involvement seems to be specifically dependent on the basis of relatively high vascularization coupled to low proliferation rate [4] Glycolipid accumulation has been demonstrated within the thyroid and gonadal tissues [5,6]. Pituitary gland represents an ideal target for FD, because of the complex vascular architecture and the abundant blood flow rate.…”