Vitiligo, hypothyroidism and cardiomyopathy

Vitiligo in association with autoimmune endocrine disorders, especially with hypothyroidism, is not uncommon. Some amount of pericardial effusion is usually present in long-standing/untreated hypothyroidism. Here we describe the case of young male with, long-standing progressive vitiligo, presenting with congestive cardiac failure due to dilated cardiomyopathy and primary hypothyroidism. Cardiac dysfunction progressively improved with thyroid hormone replacement over a period of 2 years

Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context?

Management of congenital adrenal hyperplasia (CAH) from embryonic stage to adulthood is a critical challenge. We would like to comment on some of the practical difficulties in offering prenatal treatment for CAH-affected fetuses in Indian population. For initiating the prenatal dexamethasone (DEX) treatment, all members of the family need to be informed about the risks and benefits of the treatment to the mother and the fetus as well as about the available invasive diagnostic tests to determine the gender and genotype of the fetus. Prenatal sex disclosure is not routinely practiced in India due to high female feticide rate. The treatment has to be given to both unaffected and affected female fetuses until the determination of prenatal sex. Moreover, most of our populations reside in rural areas where the antenatal care is not adequate. Prenatal DEX treatment in India outruns the risks rather than the benefits, as evident from the literature on the safety of pregnant mothers and fetuses

Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism

Background: Onset of puberty in boys usually occurs by 14 years of age. Some boys may exhibit delayed sexual maturation till about 17-18 years of age. However, pubertal onset beyond 18 years of age is exceedingly rare. Materials and Methods: Patients diagnosed as idiopathic hypogonadotropic hypogonadism (IHH) who had onset of puberty (increase in testicular volume >10 ml) while on androgen therapy were studied. These patients were evaluated prospectively. Results: There were nine subjects that were included in the study. The pre-therapy testicular volumes ranged from 3 to 6 ml. Luteinizing hormone (LH) levels increased from 1.2 ± 0.96 to 2.8 ± 1.0 IU/L, follicular stimulating hormone (FSH) levels increased from 1.5 ± 0.79 to 3.5 ± 1.9 IU/L, and testosterone increased from 0.36 ± 0.16 to 3.4 ± 2.1 ng/ml. Three out of nine patients had testosterone levels below 3 ng/ml. Conclusion: Our present study indicates that pubertal development can occur in patients presenting with hypogonadotropic hypogonadism after 18 years of age. However, acquired pubertal status may be subnorma

Behavioral aggressiveness in boys with sexual precocity

Background: Some boys with sexual precocity are known to have behavioral problems like increased physical and verbal aggression and school and social maladjustments. It is believed to be due to premature androgen exposure. However, it is not clear why only some develop this problem, difference in etiology could be one explanation. Aim: The aim of the study is to assess behavioral aggression in boys with sexual precocity due to different disorders. Materials and Methods: Seven children, ages three to seven years, were enrolled for this study. Two were diagnosed to have congenital adrenal hyperplasia (CAH), three had testotoxicosis, while two had central precocious puberty. Parents of children with precocious puberty underwent the (CASP) questionnaire (children′s aggression scale-parent version). Results: Testosterone levels were high in all patients. Parents denied any history of physical or verbal aggression in the two boys with CAH. Their CASP rating was 0. In contrast, the CASP ratings in the two boys with testotoxicosis and the two with precocious puberty for five domains ranged from 3.1 - 24.2, 2.6 - 8.3,1-5.6,0 - 7.1, and 0 - 1, respectively. In the present study, increased aggression was seen among all the patients with testotoxicosis and both with precocious puberty. In contrast, there were no symptoms of either increased verbal or physical aggression in either of the two patients with CAH. Conclusions: The hormonal milieu in the boys with CAH versus those with sexual precocity due to other causes differed in terms of cortisol and androgen precursors. The androgen excess in CAH children was a consequence of cortisol deficiency. It is possible that cortisol sufficiency is required for androgen-mediated behavioral effects

Internal jugular vein adrenocorticotropic hormone estimation for diagnosis of adrenocorticotropic hormone-dependent Cushing′s syndrome: Ultrasound-guided direct jugular vein sample collection

Aim of Study: To assess the utility of internal jugular vein (IJV) / peripheral adrenocorticotropic hormone (ACTH) gradient in determining the etiology of ACTH- dependent Cushing′s syndrome. Materials and Methods: Patients with ACTH-dependent Cushing′s syndrome, (except children less than 12 years), had IJV blood collection under ultrasound guidance using a linear 7 MHZ probe. Blood was collected with a 21 G needle at the level of mandible with the patient in supine position. Six ml of blood was collected sequentially from right and left internal jugular veins for ACTH and prolactin estimation. Peripheral blood for ACTH and prolactin was taken from a previously placed IV cannula in the antecubital vein. Results: Thirty patients (20 F, 10 M, age 14 to 50 yrs) were enrolled for this study. Source of ACTH excess was pituitary in 22, ectopic ACTH in 4, and unknown in 4 cases. Using an IJV: Peripheral ACTH ratio of ≥ 1.6, 15 out of 22 Cushing′s disease patients were correctly identified. However, 1 out of 4 ectopic Cushing also had IJV: Peripheral ratio ≥ 1.6. Overall, it had sensitivity of 68% with specificity of 75% while MRI pituitary and HDDST had sensitivity of 86% and 59%, respectively, with specificity of 100% each. Conclusion: IJV: Peripheral ACTH gradient was observed in 68% of patients with Cushing′s disease. Simultaneous IJV and peripheral sample collection with CRH stimulation may improve sensitivity and specificity of this test

Hypokalemic paralysis as a presenting manifestation of primary Sjogren′s syndrome: a report of two cases

Primary Sjogren's Syndrome (pSS) is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Overt or latent Renal Tubular Acidosis (RTA), caused by tubulointerstitial nephropathy, is a common extraglandular manifestation of pSS. Hypokalemic paralysis is a well known, albeit rare complication of severe distal RTA from any cause. Cases of pSS manifesting for the first time as hypokalemic paralysis caused by distal RTA have been rarely reported. We herein present our experience of two cases, who presented to us for evaluation of hypokalemic paralysis and on work up found evidence of distal RTA, which on further work up found to be secondary to pSS. A high index of suspicion for pSS should be kept in all patients with hypokalemic paralysis

Insulinoma: Reversal of brain magnetic resonance imaging changes following resection

Insulinoma presents with myriad manifestations and severe neurological deficit may develop due to delay in diagnosis. We report a lady who presented with Glasgow coma scale of E1 M2 V1, which did not improve after correction of hypoglycemia. There was complete reversal of neurological deficit and brain magnetic resonance imaging changes of hypoglycemia on follow-up after resection of pancreatic insulinoma. This is the first report which shows reversal of hypoglycemic changes in MRI after resection of insulinoma. Insulinoma, pre and post surgery provides a model for study of the effect of hypoglycemia and its improvement after euglycemia

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

Context: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH. Aims: To find out the underlying mutations of CYP21A2 gene. Settings and Design: Cohort of CAH patients. Materials and Methods: Sixty-two patients with CAH were recruited from the endocrine clinic at AIIMS. Electrochemiluminiscence method was used for estimating the levels of cortisol. Radioimmunoassay kit-based method was used for estimating the 17 OHP levels. Polymerase chain reaction amplification was done using specific primers to amply the CYP21A2 gene. Statistical Analysis Used: Statistical analysis was done by using Epi Info Version 3.5.1.2008. Results: Out of 62 patients, 50 were simple virilizers (SV) and 12 were salt wasters (SW). Fifty-six were females and six were males. Five 46, XX children were reared as males. Age at presentation varied from 8 months to 38 years. Molecular genetic analysis revealed that the highest number of patients harboured (In 2) IVS2-13 A/C > G (48%), followed by p.P30L (46%), p.Q318X (35%), (D 8 bp) deletion 8 bp (26%), p.I172N (26%), and p. R356W (20%) mutations. Conclusion: This is among the few studies to analyze the mutational spectrum of CYP21A2 gene in a large CAH cohort from India. Molecular diagnosis of CYP21A2 gene should be considered as part of the CAH evaluation to assess the risk of the patients/parents/siblings and to offer genetic counseling