Background: Adrenal insufficiency is the clinical manifestation of deficient production or action of glucocorticoids, with or without deficiency of mineralocorticoids and adrenal androgens. It results from primary adrenal failure or secondary adrenal disease due to impairment of the hypothalamic-pituitary axis. Patients often have nonspecific symptoms such as weakness, fatigue, lethargy, anorexia, nausea, vomiting, fever, confusion or coma. Without appropriate therapy, shock progresses to coma and death. The aim of the study was to evaluate the clinical and biochemical parameters at presentation in patients admitted with adrenal insufficiency. Methods: Patients diagnosed with adrenal insufficiency fulfilling the diagnostic criteria were considered as study population. Purposive consecutive type of sampling method was applied. Data was collected in a structured questionnaire. All the data were analysed by SPSS V 22.0. Results: A total of 100 patients of adrenal insufficiency were included in the study. The most were in the age group of 51-60 years (33%), mean age ± SD was 50.82±13.51 years & 38% were male. In our study, 100% patients had generalized weakness, 88% had GI symptoms, 41% had vertigo and 18% had weight loss. Most of them (83%) had vomiting, 70% had nausea and only 17% had anorexia. 38% patients were anaemic and 23% had shock and 33% patients presented with adrenal crisis. In this study, 82% patient were hypotensive, 46% had postural hypotension. In our study, 56% had puffy face, 49% had history of weight gain, 26% had skin thinning. Mean Hb was 10.96 gm/dl, 25% had a serum creatinine of>1.2 mg/dl. Hypoglycaemia was present in 7%, 12% had high blood urea nitrogen, 71% had hyponatraemia, 39% had hyperkalaemia, 12% had hypercalcaemia and 20% had acidosis. Conclusion: Adrenal insufficiency presented with non-specific features like fatigue, weakness, vertigo, GI symptoms, unexplained fever or weight loss and specific pattern of biochemical findings like hyponatraemia, hyperkalaemia, mild acidosis, hypercalcaemia & hypoglycaemia. So, these features should raise the suspicion of adrenal insufficiency.
Congenital adrenal hyperplasia (CAH) describes a group of autosomal disorders where there is impairment of cortisol biosynthesis. Here is a case of 11-year-old girl who presented with enlargement of external genitalia, excessive growth of hair in pubis, axilla, face and lower limbs along with growth spurt, excessive sweating and deepening of voice for 4 years. On examination she had normal body habitus, hirsutism (modified Ferriman- Gallwey Score-8), acanthosis nigricans in neck and axillary region, Tanner staging revealed stage-II breast development and stage IV female pattern pubic hair. Genitalia examination showed clitoromegaly with normal labia majora, minora and urethral position. Chromosomal analysis showed a normal female 46XX karyotype with normal uterus and bilateral ovaries on ultrasonography. Serum testosterone was elevated and 17- hydroxyprogesterone (17 OHP) was mildly elevated, raising the suspicion of non-classical congenital adrenal hyperplasia which was confirmed later by performing short Synacthen test. Patient and her parents were counseled regarding the diagnosis and clitoroplasty was done and prednisolone 5 mg daily at night in reverse circadian rhythm started. After 3 months of treatment, her hirsutism significantly reduced and menstruation had begun. Birdem Med J 2020; 10(3): 204-206
Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with female type of external genitalia. Laboratoryanalyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropichypogonadism. Pelvicultrasonography showed an infantile uterus and streak gonads. Chromosome analysis revealed 46, XYkaryotype. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyersyndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis. Birdem Med J 2020; 10(2): 130-132
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