Journal of Genetic Syndromes & Gene Therapy
Open Access

A case of Hoffman′s syndrome masquerading as pituitary tumor

3^rd Annual Congress on Rare Diseases and Orphan Drugs

October 30-November 01, 2017 San Antonio, USA

Arnab Ghosh and Manish Bhartiya

Armed Forces Medical College, India
All India Institute of Medical Sciences, India

Scientific Tracks Abstracts: J Genet Syndr Gene Ther

Abstract :

Hoffman�s syndrome is a rare and atypical presentation of hypothyroidism, is characterized by pseudo-hypertrophy and stiffness of muscles, myxoedematous features. Long standing hypothyroidism can cause pituitary hyperplasia which is difficult to distinguish with pituitary adenoma even with contrast MRI. We describe a case of a 48 years old male with long standing uncontrolled primary hypothyroidism presenting as Hoffman�s syndrome with reactive pituitary hyperplasia that mimicked a pituitary macroadenoma. We report a case of 48 years-old man, an old case of hypothyroidism (onset 2005) with poor drug compliance presented with progressive proximal muscular weakness with muscle cramps and myalgia, swelling of all four limbs, dark pigmentation of several body parts involving face, increased hair fall, change in voice, increased body size and memory loss. Clinical examination revealed macroglossia, infiltrated facies, hoarse voice, increased soft tissue mass all over body specially face, limbs and trunk, dark pigmentation of face, legs, oral mucosa and nails, Pseudo-herculean appearance, hypertrophy of muscles with an athletic look. Neurological examination revealed pseudo-hypertrophy with proximal paresis of lower limb muscles and generalized hyporeflexia. Laboratorial investigation revealed increased CPK, mild elevation of serum level of creatinine, dyslipidemia, high TSH, low T3 and T4 with raised levels of anti thyroid-peroxidase antobodies. NCS was normal. DXA scan revealed increased fat composition. MRI brain revealed pituitary mass. After 20 days of thyroid hormone therapy, the patient had improvement of the muscular cramps. After 03 months of active therapy a repeat MRI was done which showed regression of size of the mass. In a case of primary hypothyroidism with a solid mass lesion of the pituitary gland, pituitary hyperplasia secondary to hypothyroidism rather than pituitary adenoma should be excluded to avoid unnecessary surgical intervention which has its own complications.

Biography :

Arnab Ghosh is currently a Post-graduate student in Internal Medicine, Armed Forces Medical College, India. His areas of interests are cardiology, endocrinology, hematology and neurology.