Kk Gupta

The other side of Turner's: Noonan's syndrome.

Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age.

Radiological manifestations of juvenile hypothyroidism

Thyroid hormone is required for the normal growth and maturation of the skeleton. The action of thyroid hormone on skeleton is varied, including direct chondrocyte and osteoblast stimulation, as well as potentiating the action of growth hormone on the bone. Juvenile hypothyroidism is evolving as the most common form of thyroid dysfunction in the growing age, and it has different radiological manifestations from that of congenital hypothyroidism. We present the skeletal X-rays of a 24-year-old man with juvenile onset autoimmune hypothyroidism (duration of illness of approximately 16 years), who came for evaluation of short stature.

Skeletal manifestations of juvenile hypothyroidism and the impact of treatment on skeletal system.

Thyroid hormone mediates growth and development of the skeleton through its direct effects and through its permissive effects on growth hormone. The effect of hypothyroidism on bone is well described in congenital hypothyroidism, but the impact of thyroid hormone deficiency on a growing skeleton, as it happens with juvenile hypothyroidism, is less defined. In addition, the extent to which the skeletal defects of juvenile hypothyroidism revert on the replacement of thyroid hormone is not known. A study was undertaken in 29 juvenile autoimmune hypothyroid patients to study the skeletal manifestations of juvenile hypothyroidism and the impact of treatment of hypothyroidism on the skeletal system of juvenile patients. Hypothyroidism has a profound impact on the skeletal system and delayed bone age, dwarfism, and thickened bands at the metaphyseal ends being the most common findings. Post treatment, skeletal findings like delayed bone age and dwarfism improved significantly, but there were no significant changes in enlargement of sella, presence of wormian bones, epihyseal dysgenesis, vertebral changes and thickened band at the metaphyseal ends. With the treatment of hypothyroidism, there is an exuberant advancement of bone age, the catch up of bone age being approximately double of the chronological age advancement.

Kocher-Debre-Semelaigne syndrome

Thyroid hormone deficiency is an unusual cause of acquired myopathy, although complaints of muscular weakness can be present in up to 40% of patients. Among the patients with myopathy, <10% of the patients develop pseudomuscular hypertrophy known as Kocher-Debre-Semelaigne syndrome (KDS) in children and Hoffmann syndrome in adults. We report a case of autoimmune hypothyroidism where weakness and growth failure were predominant complaints, and hypertrophied calf muscles were easily noticeable. Although rare, KDS remains an easy to diagnose and treatable cause of reversible myopathy and therefore, must be considered in differential diagnosis of hereditary myopathies.

Correlation of acanthosis nigricans with insulin resistance, anthropometric, and other metabolic parameters in diabetic Indians

Introduction: Acanthosis nigricans is a non-specific reaction pattern that may accompany obesity, diabetes, excess corticosteroids, pineal tumors, malignancies, and other endocrine disorders. It is considered a cutaneous marker of tissue insulin resistance. Aims and Objectives: To determine the prevalence of acanthosis nigricans in type 2 diabetes mellitus (DM) and its correlation with various anthropometric measurements and insulin resistance by HOMA-IR and other metabolic parameters. Materials and Methods: One hundred and fifty consecutive subjects with newly diagnosed type 2 DM, attending the endocrinology OPD of LLRM Medical College, Meerut were studied. Acanthosis was graded based on standard scale of 0-4 as described by Burke et al. Anthropometric data were obtained and insulin resistance calculated as HOMA-IR from fasting insulin and fasting blood sugar values. Results: The average age of the study population was 45.2 years, with male to female ratio of 1:5. The prevalence of acanthosis in males was 56.67% and in females was 86.92%. The acanthosis neck severity grading had a statistically significant correlation with fasting glucose levels, fasting insulin levels, and insulin resistance values: HOMA-IR, HOMA-S, and HOMA-B (P < 0.05). Other acanthosis parameters such as axillary grading, acanthosis at knuckles, and skin tags, did not have a statistically significant correlation with insulin resistance. Conclusion: Acanthosis nigricans neck severity grading correlates well with insulin resistance and can be used as a clinical surrogate for assessment of severity of insulin resistance.

Endocrine manifestations of celiac disease

Background: Celiac disease can have extra gastrointestinal tract (GIT) presentations, most of which are endocrine. The aim of this study was to present patients diagnosed to have celiac disease from an endocrine department and to study the prevalence of endocrinopathies in celiac disease. Materials and Methods: A total of 36 patients from the endocrinology department (LLRM Medical College, Meerut) between January 2011 and July 2012 and who were diagnosed to have celiac disease were included in the study. Results: Short stature was the commonest presentation (25%), other presentations included short stature and delayed puberty (20%), delayed puberty (11%), screening for celiac disease in type-1 DM patients (17%), rickets (6%), anemia not responding to oral therapy (6%), type-1 DM with recurrent hypoglycaemia (6%), and osteomalacia (3%). The endocrine manifestations include (after complete evaluation) short stature (58%), delayed puberty (31%), elevated alkaline phospahatase (67%), low calcium (22%), X-rays suggestive of osteomalacia or rickets (8%), capopedal spasm (6%), and night blindness (6%). Anti-TPO antibody positivity was found in 53%, hypothyroidism in 28%, subclinical hypothyroidism in 17%, and type-1 DM in 25% of the patients. A total of 14% patients had no GI symptoms. Conclusion: Celiac disease is an endocrine disrupter as well as the great masquerader having varied presentations including short stature, delayed puberty, and rickets. Some patients who have celiac disease may not have any GI symptoms, making the diagnosis all the more difficult. Also, there is significant incidence of celiac disease with hypothyroidism and type-1 DM, making screening for it important in these diseases.

An unusual presentation of Hashimoto's encephalopathy.

Hashimotos encephalopathy (HE) is a rare steroid-responsive encephalopathy syndrome, which can have highly variable neuropsychiatric manifestations and can go unrecognized for a long time. HE is a diagnosis of exclusion and should be kept in mind when evaluating a patient with a cognitive dysfunction and high titers of anti-thyroid antibodies as it responds dramatically to steroids. Steroid responsive myoclonus can be a presentation of HE.

A young diabetic with suicidal risk: Rare disease with a rarer presentation

Rare genetic or inherited forms of diabetes can mimic immune mediated type 1 diabetes. Early age of onset and associated features help to differentiate these diseases from type 1 diabetes. Wolfram syndrome, an inherited neuro degenerative disorder, presents as insulin dependent diabetes mellitus, diabetes insipidus, optic atrophy and deafness. But less well described features like psychiatric manifestations can be the presentation of this disease. We present such a case. Wolfram syndrome should be considered as a differential diagnosis in insulin dependent diabetic children who present with neuropsychiatric problems.

Pulse dexamethasone therapy versus pulse methylprednisolone therapy for treatment of Graves's ophthalmopathy

Pulse methylprednisolone therapy is the recommended therapy for moderate to severe and active ophthalmopathy, but high dose pulse methylprednisolone therapy is marred by the chances of fulminant hepatic failure and the high cost of therapy. Dexamethasone pulse therapy can be considered as an alternative to pulse methylprednisolone therapy. A prospective randomized control trial was carried out in 21 patients comparing pulse dexamethasone therapy versus pulse methyprednisolone therapy in Gravess ophthalmopathy. This study proved that pulse dexamethasone therapy is a cheaper and equally effective therapy for Gravess ophthalmopathy and the cost of therapy is reduced to at least 1/8th s. Furthermore, dexa had a better effect on reduction of exophthalmos. The dreaded complication of fulminant hepatic failure, associated with high dose of methylprednisolone, is not seen with dexa therapy.

Atypical presentations of Wolframs syndrome.

Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.