The O:E ratios for POSSUM and P-POSSUM were close to unity when the appropriate analysis was performed. Both POSSUM and P-POSSUM overpredicted death if the incorrect analysis was used.
SummaryCongenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed accelerated growth with advanced bone age, premature pubarche, phallic enlargement and hyperpigmentation. Biochemically, the patient was proven to have CAH due to 3β-HSD deficiency. However, the co-existence of bilateral cryptorchidism made us to consider the possibility of hypogonadism as well, and it was further explained by concurrent existence of mosaic KS (47,XXY/46,XX). He was started on glucocorticoid and mineralocorticoid replacement and underwent right-sided orchidopexy on a later date. He showed significant clinical and biochemical improvement on subsequent follow-up. However, the declining value of serum testosterone was accompanied by rising level of FSH thereby unmasking hypergonadotropic hypogonadism due to mosaic KS. In future, we are planning to place him on androgen replacement as well.Learning points:Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards some unusual varieties of CAH.High level of serum testosterone, adrenal androgen, plasma ACTH and low basal cortisol are proof of CAH, whereas elevated level of 17-OH pregnenolone is biochemical marker of 3β-HSD enzyme deficiency.Final diagnosis can be obtained with sequencing of HSD3B2 gene showing various mutations.Presence of bilateral cryptorchidism in such a patient may be due to underlying hypogonadism.Karyotyping in such patient may rarely show mosaic KS (47,XXY/46,XX) and there might be unmasking of hypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment.
the observations explain the clinical findings of intimal hyperplasia (IH) at the heel of PTFE/cuff anastomoses. The improved patency rates of cuffed ESA may be due not to decreased IH, but to an increased ability of the cuff to accommodate IH before causing a significant stenosis.
Background: Aberrant lipid metabolism presumed to have important relationship with gestational diabetes mellitus (GDM), though previous studies revealed inconsistent results on this area. Objectives: To identify the difference of serum lipid profile between gestational diabetes mellitus (GDM) and pregnant woman with normal glucose tolerance (NGT). Methods: This cross sectional study was conducted from January 2017 to December 2017 at Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh with 31 GDM and equal number of NGT pregnant women diagnosed on the basis of WHO criteria-2013, during 24 -40 weeks of gestation. Glucose was measured by glucose oxidase method and fasting serum lipid profile [Total cholesterol (TC), High Density Lipoprotein-cholesterol (HDL-C) and Triglyceride (TG)] was measured by enzymatic-colorimetric method. Data were analyzed and compared by statistical tests. Results: Among total sixty-two (62) study subjects, 31 were GDM (age: 27.52 ± 4.8 years, body mass index (BMI): 27.17 ± 3.3 kg/m 2 ) and 31 were pregnant women with NGT (age: 24.94 ± 4.2 years, BMI: 25.43 ± 6.5 kg/m 2 ). Mean age of GDM group was significantly higher than that of NGT group (p = 0.028). Women with GDM showed relatively higher BMI than NGT women but that was not statistically significant (p = 0.194
Summary Silent corticotroph adenoma (SCA) is an unusual type of nonfunctioning pituitary adenoma (NFA) that is silent both clinically and biochemically and can only be recognized by positive immunostaining for ACTH. Under rare circumstances, it can transform into hormonally active disease presenting with severe Cushing syndrome. It might often produce diagnostic dilemma with difficult management issue if not thoroughly investigated and subtyped accordingly following surgery. Here, we present a 21-year-old male who initially underwent pituitary adenomectomy for presumed NFA with compressive symptoms. However, he developed recurrent and invasive macroadenoma with severe clinical as well as biochemical hypercortisolism during post-surgical follow-up. Repeat pituitary surgery was carried out urgently as there was significant optic chiasmal compression. Immunohistochemical analysis of the tumor tissue obtained on repeat surgery proved it to be an aggressive corticotroph adenoma. Though not cured, he showed marked clinical and biochemical improvement in the immediate postoperative period. Anticipating recurrence from the residual tumor, we referred him for cyber knife radio surgery. Learning points: Pituitary NFA commonly present with compressive symptoms such as headache and blurred vision. Post-surgical development of Cushing syndrome in such a case could be either drug induced or endogenous. In the presence of recurrent pituitary tumor, ACTH-dependent Cushing syndrome indicates CD. Rarely a SCA presenting initially as NFA can transform into an active corticotroph adenoma. Immunohistochemical marker for ACTH in the resected tumor confirms the diagnosis.
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