Subject(s)
Abnormalities, Multiple/genetics , Diabetes Mellitus, Type 2/genetics , Genetic Linkage , Hearing Loss, Sensorineural/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Female , Humans , Hypertension/genetics , Intellectual Disability/genetics , Jordan , Male , Obesity/genetics , Pedigree , Siblings , Syndrome , Vision Disorders/geneticsABSTRACT
OBJECTIVE: To assesses the frequency and degree of pituitary hyperplasia in patients with primary hypothyroidism, the association of pituitary enlargement with disease severity, and the response to treatment. METHODS: Between April 2002 and August 2004 at the National Center for Diabetes, Endocrinology and Genetics in Amman, Jordan, 53 patients (49 female and 4 male subjects) with primary hypothyroidism and serum thyrotropin (thyroid-stimulating hormone or TSH) levels of > or = 50 microIU/mL were encountered. Initial and follow-up investigations included thyroid function tests, serum prolactin levels, and magnetic resonance imaging (MRI) of the pituitary. Visual field examination was requested for all patients with pituitary enlargement (and adequately completed in 24). RESULTS: Pituitary enlargement on MRI was found in 37 of the 53 patients (70%), with 31 of the 37 patients (84%) having TSH levels of > or = 100 microIU/mL. After thyroxine treatment, 85% of the patients with pituitary enlargement who underwent a follow-up MRI showed a decrease in size of the gland. About half of the patients were referred to our facility with the diagnosis of hypothyroidism; presenting features in the rest of the patients included galactorrhea, menstrual irregularities, learning disability, short stature, precocious puberty, ovarian hyperstimulation syndrome, headaches, visual field defects, and dry ichthyotic skin. CONCLUSION: The association between pituitary gland enlargement and primary hypothyroidism should be kept in mind when pituitary hyperplasia is detected on MRI, before unwarranted and drastic interventions are initiated.
Subject(s)
Hypothyroidism/diagnosis , Hypothyroidism/epidemiology , Pituitary Gland/pathology , Thyrotropin/metabolism , Thyroxine/therapeutic use , Adolescent , Adult , Age Distribution , Child , Child, Preschool , Cohort Studies , Comorbidity , Developing Countries , Female , Follow-Up Studies , Humans , Hyperplasia/diagnosis , Hyperplasia/epidemiology , Hypothyroidism/drug therapy , Incidence , Jordan/epidemiology , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Risk Assessment , Sex Distribution , Thyroid Function TestsABSTRACT
Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity.
