Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic

AbstractIntroductionAccording to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.MethodsWe carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded.ResultsWe included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population.ConclusionsDSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

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The Intersex Enchiridion: Naming and Knowledge

Somatechnics ◽

10.3366/soma.2011.0026 ◽

2011 ◽

Vol 1 (2) ◽

pp. 388-411 ◽

Cited By ~ 13

Author(s):

Morgan Holmes

Keyword(s):

Queer Theory ◽

Disorders Of Sex Development ◽

Clinical Use ◽

Pediatric Endocrinology ◽

Clinical Context ◽

Fundamental Knowledge ◽

Sex Development ◽

Trace Back ◽

New Guidelines ◽

Work Done

The 2006 Lawson Wilkins Pediatric Endocrinology Society (LWPES) consensus to alter clinical language from ‘intersex’ to Disorders of Sex Development (DSD) has not met its stated objective of destigmatizing the ‘intersex’ label. Rather, DSD works to paper over a problematic understanding of morphological variation as disease. This article interrogates the development of DSD terminology in the clinical context of treating intersex and argues that ‘DSD’ reinstitutionalises clinical power to delineate and silence those marked by the diagnosis; that this silencing is precisely the point of the new terminology; and that it is against that retrenchant impulse that we must protect the viability of ‘intersex’ by continuing its critical deployment. This paper is based on an application of embodiment studies models of critique, combined with an orientation grounded in queer theory to critically interrogate the development of both DSD language and of the ‘new’ guidelines for clinical use, and of the Handbook for Parents that were developed out of the 2006 LWPES meetings. Some of my critique is based on work done over an 18-year period with adults who created the contemporary intersex movement, and on my previous research (in particular: Holmes 2002 , 2008 , 2010). The point of the argument is not to determine which diagnostic language is superior, but to retain the hard-won right to secure for ourselves the ability to operate socially without the stamp of ‘disorder’ or ‘disease’ strictly delineating what counts as ‘truth’ with regard to embodiment. In this sense, the argument applies to and is drawn out of a larger disability scholarship and activism framework that refuses to permit medicine the final voice in defining our bodies and our selves. The title refers to an older handbook, the enchiridion as a gesture toward the need to retain fundamental knowledge of self that intersexed persons can trace back to a more flexible understanding of embodied differences than the language of disorder asserts in the new Handbook for Parents.

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Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

Endocrine Connections ◽

10.1530/ec-20-0454 ◽

2020 ◽

Vol 9 (11) ◽

pp. 1085-1094

Author(s):

Letícia Ribeiro Oliveira ◽

Carlos Alberto Longui ◽

Guilherme Guaragna-Filho ◽

José Luiz Costa ◽

Rafael Lanaro ◽

...

Keyword(s):

Mass Spectrometry ◽

Correlation Coefficient ◽

Intraclass Correlation ◽

Disorders Of Sex Development ◽

Rank Correlation ◽

Pediatric Endocrinology ◽

Spearman’S Rank Correlation ◽

Sex Development ◽

Spearman’S Rank Correlation Coefficient ◽

Before And After

Objective Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (rhCG) stimulus in children with 46,XY disorders of sex development (DSD). Methods Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non-gonadectomized. Testosterone, dihydrotestosterone (DHT), DHEA and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analyzed by the intraclass correlation coefficient (ICC) and Spearman’s rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used. Results Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS. Conclusion Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

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