Endocrine Abstracts

Thauvin-Robinet-Faivre (TRF) syndrome is a rare autosomal recessive condition characterised by excessive fibroblast proliferation and only 4 cases from two families have been reported in the literature to date. It is typified by a gene mutation of the FGF-1 intracellular binding protein (FIBP) and its full phenotype is still being characterised. We present a case history of a patient who had TRF associated with androgen insensitivity syndrome (AIS). A 22 years old male was referred to the endocrinology clinic by his dermatologist, who noticed profound furrowing of the forehead and wondered about a diagnosis of acromegaly. Tests on referral revealed an elevated serum testosterone of > 35 nmol/l with inappropriately normal gonadotrophins. On review the patient reported excessive sweating, excessive hair growth, bilateral gynaecomastia, headaches, joint pains. A background of autistic spectrum disorder, atrial and ventricular septal defects, Chiari malformation, hypermobility and macrocephaly were noted. Examination revealed normal secondary sexual characteristics, euthyroid state, and bilateral gynaecomastia. Testicular examination was normal. Repeat pituitary profile revealed IGF-I level of 51.8 nmol/l (normal 14.2-61.4 nmol/l) excluding a diagnosis of acromegaly. MRI pituitary was normal. Repeat serum testosterone was within normal limits and ultrasound of testes was normal. A diagnosis of pachydermatoperostosis was entertained. The patient was referred to the clinical genetics clinic in a tertiary centre but molecular testing for pachydermatoperostosis was negative. A trio whole genome sequencing revealed a homozygous gene mutation of FIBP, confirming a diagnosis of TRF syndrome but also a hemizygous mutation of the androgen receptor gene resulting in mild AIS. This to our knowledge, is the first described case of TRF presenting in conjunction with AIS. AIS could be part of the phenotype for TRF but other cases will need to be identified to confirm this. A lower threshold of screening for AIS may be required to identify cases earlier.