Ambiguous genitalia: an overview of 7 years experience at the Children's Hospital and Institute of Child Health, Lahore, Pakistan

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

Allgrove syndrome: adrenal insufficiency with hypertensive encephalopathy

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

Pheochromocytoma: a rare cause of childhood hypertensive encephalopathy

Pheochromocytomas are rare neuroendocrine tumours of chromaffin tissues. They are catecholamine secreting tumours which cause severe hypertension and other systemic disturbances. Of all the causes of childhood hypertension, pheochromocytoma constitutes less than 1%. We report the case of a 12 years old child who presented with hypertensive encephalopathy, confirmed histologically to be secondary to pheochromocytoma, and cured with meticulous critical care and surgical resection