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11. Gastro-esophageal Reflux

Author

Auldist, Alex W., Clarnette, Thomas, Samnakay, Naeem, Parikh, Dakshesh H., editor, Crabbe, David C. G., editor, Auldist, Alexander W., editor, and Rothenberg, Steven S., editor

Published
2009
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27. Expect the unexpected

Author

Kamaraj, Senthil, primary, Unny, A., additional, Tamilzvhvanan, V., additional, Kannan, S Vellore, additional, and Samnakay, Naeem, additional

Published
2020
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36. MP56-16 EFFICACY AND SAFETY OF TRANSDERMAL OXYBUTYNIN VERSUS ORAL OXYBUTYNIN IN THE MANAGEMENT OF PEDIATRIC NEUROGENIC BLADDER

Author

Rice, Emily, primary, Watkins, Laura, additional, Sivalingam, Gowri, additional, Burmaz, Maddison, additional, Thetford, Anna, additional, Thomson, Elizabeth, additional, Valentine, Jane, additional, Gubbay, Anna, additional, Hotana, Gavan, additional, Langdon, Katherine, additional, Samnakay, Naeem, additional, Barker, Andrew, additional, and Khosa, Japinder, additional

Published
2018
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42. A novel, homozygous mutation in <italic>desert hedgehog</italic> (<italic>DHH</italic>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.

Author

Rothacker, Karen M., Ayers, Katie L., Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A., Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H., and Choong, Catherine S.

Subjects
PRIMARY amenorrhea, HOMOZYGOSITY, GENETIC mutation
Abstract

Background: Desert hedgehog (DHH) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis. This novel mutation is two amino acids away from a previously described mutation in a patient who presented with complete gonadal dysgenesis. Adding to the complexity of work-up, our patient also expressed gender identity concern. Case presentation: A 14-year-old, phenotypic female presented with primary amenorrhoea and absent secondary sex characteristics. Investigations revealed elevated gonadotrophins with low oestradiol, testosterone of 0.6 nmol/L and a 46, XY karyotype. Müllerian structures were not seen on pelvic ultrasound or laparoscopically and gonadal biopsies demonstrated dysgenetic testes without neoplasia (partial gonadal dysgenesis). The patient expressed gender identity confusion upon initial notification of investigation findings. Formal psychiatric evaluation excluded gender dysphoria. Genetic analysis was performed using a targeted, MPS DSD panel of 64 diagnostic and 927 research candidate genes. This identified a novel, homozygous mutation in exon 2 of DHH (DHH:NM_021044:exon2:c.G491C:p.R164P). With this finding our patient was screened for the possibility of peripheral neuropathy which was not evident clinically nor on investigation. She was commenced on oestrogen for pubertal induction. Conclusion: The evaluation of patients with DSD is associated with considerable psychological distress. Targeted MPS enables an affordable and efficient method for diagnosis of 46, XY DSD cases. Identifying a genetic diagnosis may inform clinical management and in this case directed screening for peripheral neuropathy. In addition to the structural location of the mutation other interacting factors may influence phenotypic expression in homozygous DHH mutations. [ABSTRACT FROM AUTHOR]

Published
2018
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43. Page Kidney in a Child with Severe Pelviureteric Junction Obstruction

Author

G. Kamaraj, Senthil, Kochunny, Ashita, Kathirvelu, Gopinathan, Singh, Praachi, and Samnakay, Naeem

Abstract

There are various causes of Reno Vascular Hypertension in children reported in the literature. Amongst these, Page kidney gets a rare mention. This phenomenon is a result of the accumulation of blood or urine in the perinephric or subcapsular space, resulting in compression of renal parenchyma, microvascular ischemia, alteration in the renin-angiotensin apparatus, and high renin hypertension. It has been well documented and studied in adults. Only a few cases are reported in the paediatric population. We report a rare presentation of Page kidney in a 5 year 8 months old girl. She initially presented with Dietl’s crisis secondary to left Pelviureteric Junction obstruction (PUJO) causing massive hydronephrosis. She developed Page kidney phenomenon after spontaneous rupture of the pelvicalyceal system formed a tight compressive urinoma. She was managed successfully with internal JJ stenting and ultrasound-guided aspiration of the urinoma followed by elective delayed Pyeloplasty. To our knowledge, this is the first documented case of Page kidney in a child with severe PUJO.

Published
2020
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