Partial empty sella syndrome: a case report and review.

Empty sella syndrome is a damaged pituitary gland. Either the gland has shrunk or has been crushed and flattened making it look like an empty sella on MRI scan. The reported prevalence of primary empty sella in general population is 8-35 %. The incidence is more in females, the ratio being 5:1. It is generally found in middle aged women who are obese and hypertensive.

Study of prevalence of endocrine abnormalities in primary empty sella.

INTRODUCTION: Empty sella is usually an incidental finding. Empty sella is an anatomical condition characterized by the presence of cerebrospinal fluid within the sella with a small pituitary gland compressed above the pituitary floor causing endocrine abnormalities. AIM: The aim of this study is to evaluate hormonal abnormalities associated with empty sella in tertiary care center. MATERIALS AND METHODS: This ongoing study was carried out in patients attending to endocrine out-patient departments from August 2012 to July 2013. A detailed history and examination was done. Hormonal evaluation including free thyroid hormones, thyroid stimulating hormone, growth hormone (GH), follicular stimulating hormone, luteinizing hormone, cortisol and prolactin was done. RESULTS: A total of 16 patients diagnosed clinically and biochemically of hormonal abnormalities were found to have empty sella on magnetic resonance imaging. Hypocortisolemia in 62.5% of cases, hypothyroidism in 50% of cases, in 18.75% hypogonadism, hyper prolactinemia in 18.7.5%, GH deficiency in 12.5% of cases and in 12.5% cases posterior pituitary involvement is seen. CONCLUSION: The high incidence of endocrine abnormalities associated with empty sella necessitates the need for prompt evaluation and early replacement of hormones for better quality-of-life.

A rare case of short stature: Say Meyer syndrome.

INTRODUCTION: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. CASE REPORT: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. CONCLUSION: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Iatrogenic Cushing's Syndrome in an Infant.

A high potency, long acting and/or the extended use of oral corticosteroids, particularly in children, may cause suppression of the hypothalamo-pituitary-adrenal axis. However, the iatrogenic Cushing's syndrome in the infantile age group is rare and only few patients have been reported to date in the literature. Here, we are reporting a case of iatrogenic Cushing's syndrome in a 5-month-old male child, whose parents brought him to the hospital for puffiness of the face and overweight.

Seizure as a presenting manifestation of vitamin D dependent rickets type 1.

There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. VDDR type 1 (VDDR-I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH)2D) by the enzyme 1-α-hydroxylase. Patients with VDDR-I have mutations of chromosome 12 that affect the gene for the enzyme 1-α-hydroxylase, resulting in decreased levels of 1,25(OH) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontanels and pathologic fractures. We report a case of VDDR-I in 14-month-old male child. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets is the most common variety of the disease where genetic diagnosis is not always possible because of financial constraints. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention.

Bone disease in thyrotoxicosis.

Thyrotoxicosis, a clinical syndrome characterized by manifestations of excess thyroid hormone, is one of the commonly-recognised conditions of the thyroid gland. Thyrotoxicosis causes acceleration of bone remodelling and though it is one of the known risk factors for osteoporosis, the metabolic effects of thyroxine on bone are not well discussed. Studies show that thyroid hormones have effects on bone, both in vitro and in vivo. Treatment of thyrotoxicosis leads to reversal of bone loss and metabolic alterations, and decreases the fracture risk. There are limited studies in India as to whether these changes are fully reversible. In this review we discuss about the effects of thyrotoxicosis (endogenous and exogenous) on bone and mineral metabolism, effects of subclinical thyrotoxicosis on bone and mineral metabolism and effects of various forms of treatment in improving the bone mineral density in thyrotoxicosis.

Vitamin D status and bone mineral density in women of reproductive and postmenopausal age groups: a cross-sectional study from south India.

INTRODUCTION: This study documents 25(OH)D status and bone mineral density (BMD) in women of reproductive (WR) and post-menopausal (PMW) age-groups in south India. SUBJECTS AND METHODS: Serum calcium (Ca), phosphorus (iP), albumin, alkaline phosphatase (ALP), creatinine, 25(OH)D and intact parathormone (N-tact PTH) of WR (n = 55) and PMW (n = 136) women were analyzed over a period of one year. Bone mineral Density (BMD) (Hologic, USA) was estimated using Caucasian data as reference. RESULTS: In both, WR and in PMW 25(OH)D deficiency (< 20 ng/ml), insufficiency (20-30 ng/ml) and replete states (> 30 ng/ml) were seen in 76%, 16.5%, 7.5% vs 70%, 23% and 7% respectively. PMW had lower BMD (gm/cm2) than WR at forearm ( P = < 0.001), hip trochanter (P = < 0.0001), lumbar spine antero-posterior (LSAP) (P = < 0.001) and lateral (LS Lateral) (P = < 0.001). Osteoporosis was seen at hip (15% and 28%), forearm (nil and 11%), LSAP (6% and 22%) and LS lateral (0% and 23%) among WR and PMW respectively. BMD did not correlate with any of the biochemical indices but correlated with BMD at other sites. CONCLUSIONS: Vitamin D deficiency coexists with low BMD in our study group. Serum 25(OH)D needs to be documented in women having low BMD. Calcium and vitamin D need to be supplemented as part of therapy in PMW.

High prevalence of associated birth defects in congenital hypothyroidism.

Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and (99m)Tc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59%) patients (6 males and 4 females) had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect). Five (29%) had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD), one had only patent ductus arteriosus (PDA), and one patient had both ASD and PDA. Seven patients (41%) had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.