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Submitted on April 20, 2006
Accepted on August 15, 2006
Departments of Molecular and Clinical Endocrinology and Oncology [AF, FM, MG, MF, GL, AC], Nephrology [AP, MS, BC], Radiology [FT, AS, GV], Internal Medicine [LS], "Federico II" University of Naples, Italy
* To whom correspondence should be addressed. E-mail: afaggian{at}unina.it.
Background. Fabry disease (FD) is a genetic disorder caused by lysosomal 
-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide (Gb3). All endocrine glands are susceptible to Gb3 accumulation because of their high vascularization and low cellular proliferation rate. Nevertheless, this endocrine system has never been investigated in detail.
Objective. The investigation of the function and morphology of the endocrine glands in FD.
Patients. The thyroid, gonadal, adrenal and GH/IGF-I axes were evaluated in 18 FD patients (9 females, 9 males, aged 21-64 yr) and 18 sex- and age-matched healthy subjects.
Study design. Observational, analytical, open, prospective.
Interventions. Ten of the 18 patients received enzyme replacement therapy (ERT) with rh--GalA (agalsidase 
) at a dose of 1 mg/kg/BW every 2 weeks.
Results. FD patients had higher baseline TSH levels than controls (P < 0.01). Three subjects were diagnosed with an early stage of subclinical primary hypothyroidism associated to negative anti-thyroid antibodies. A history of menses abnormalities, miscarriage, or assisted delivery was found in 89% of FD women. Asthenozoospermia, oligozoospermia or both were found in all FD men through seminal fluid analysis. FD patients had significantly higher circulating ACTH and lower cortisol levels than controls (P < 0.05). In patients under ERT, a suboptimal cortisol response to the 250 µg ACTH test was found in 10%, and the ACTH-stimulated cortisol peak was significantly correlated to the health status profile (P < 0.05).
Conclusion. A variety of latent endocrine dysfunctions, including life-threatening conditions, occurs in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related with 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.
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| Endocrinology | Endocrine Reviews | J. Clin. End. & Metab. |
| Molecular Endocrinology | Recent Prog. Horm. Res. | All Endocrine Journals |
