ABSTRACT
Objective: To determine the classification and etiological diagnosis of children presented with ambiguous genitalia/atypical genitalia according to the newer classification system of Disorder of Sex Development [DSD]
Methods: This observational, cross-sectional study was conducted at the Department of Pediatric Endocrinology and Diabetes at The Children's Hospital and Institute of Child Health, Lahore from January, 2007 to December; 2014. Files of all the children with ambiguous genitalia were retrospectively analyzed and relevant data was retrieved. All the information was recorded on predesigned proforma and analyzed accordingly
Results: A total of 300 cases of ambiguous genitalia classified according to the new DSD classification. 46, XX DSD were 54.3% [n=163], 46, XY DSD were 43.7% [n=131], sex chromosome DSD were 2% [n=6]. Among 46, XX DSD cases, the most common cause was congenital adrenal hyperplasia [97%, n=158]. However, in 46, XY DSD partial androgen insensitivity/5?-reductase deficiency [62%. n=81] constituted the most commonest disorder. Other causes of 46XY DSD include testosterone synthesis defect[23%], congenital adrenal hyperplasia [CAH,12%], testis regression syndrome [1.5%] and persistent mullerian duct syndrome [PMDS,1.5%]. Sex chromosome disorder constituted one case of iso-chromosome X turner syndrome, mixed gonadal dysgenesis [n=3], ovotesticular DSD/chimerism [n=2]
Conclusion: Ambiguous genitalia have varied etiologies, 46; XXDSD found being the commonest of all, showing predominance of CAH especially salt loosing type. The early detection and prompt treatment of cases of ambiguous genitalia plays a pivotal role in the management of acute life threatening condition and gender assignment
ABSTRACT
Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed
ABSTRACT
Allgrove syndrome or triple-A syndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone [ACTH] resistance. If it is associated with autonomic dysfunction, it is termed as 4-A syndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima [AAAS] gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A 5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-A syndrome with autonomic dysfunction