Management of Differences in Sexual Development: Evolution of an Approach for a Resource-Limited Setting

Erik Hansen, Eric Irungu, John Muma Nyagetuba, Joyce Mbogo

AIC-Kijabe Hospital, Kijabe, Kenya

Correspondences to: Erik Hansen; email: erik.hansen@utsouthwestern.edu

Received: 25 Feb 2022; Revised: 22 Aug 2022; Accepted: 24 Aug 2022; Available online: 5 Sep 2022

Abstract

Background

The approach to management of patients with disorders of sex development (DSD) has been refined over the past two decades. We sought to review DSD cases at our hospital and hypothesized that age at presentation would decline over time.

Materials and methods

A retrospective review of patients presenting to our hospital between January 1, 2005 and July 31, 2018, with findings of ambiguous genitalia was performed.

Results

A total of 44 patients were identified, 3 with cloacal exstrophy. Of the 41 remaining patients, the majority (n = 24) had ovotesticular DSD. Three time periods in the evolution to a multidisciplinary team (MDT) approach were identified: Period 1 (2003–2009), Period 2 (2010–2013), and Period 3 (2014–present). Median presenting age in Periods 1, 2, and 3 were 7 years (95% CI: 0.5–15), 6.5 years (95% CI: 1–19), and 11 years (95% CI: 2–17), respectively, and were not statistically different. 

Conclusion  

Management of patients with DSD poses a challenge to healthcare providers across the globe. The gradual evolution of patient management with incorporation of MDTs and progression toward delayed surgery is seen in this study. There is indeed a need to set up regional centers of excellence, public awareness programs, and healthcare personnel training programs for optimal management of these patients in low- and middle-income countries (LMICs).

Key words: Disorders of sex development (DSD), Ambiguous genitalia, LMIC, Intersex, Ovotesticular

Ann Afr Surg. 2022; 19(4): 186-192

DOIhttp://dx.doi.org/10.4314/aas.v19i4.5

Conflicts of Interest: None

Funding: None

© 2022 Author. This work is licensed under the Creative Commons Attribution 4.0 International License.

Introduction

Disorders of sex development (DSD) represent a complex spectrum of conditions in which there is discordance across genetic, gonadal, and phenotypic sex. These conditions arise when abnormalities occur during the process of sex determination and differentiation (1). Several disorders fall under the umbrella definition of DSD and thus previously used terminology (pseudohermaphroditism, hermaphroditism, sex reversal, etc.) are now avoided (2, 3). The major categories in the current classification of DSD are 46XX DSD, 46XY DSD, and sex chromosome DSD (4).

The global incidence of DSD is estimated to be at 1 in 4500–5000 live births (5). There is a paucity of relevant African literature so that the true incidence in Africa is largely unknown. One study from South Africa reported a prevalence of 15.1% (6), while studies from Sudan and Egypt have reported prevalence rates of 3.1 and 7.3% (7, 8). There are no published prevalence rates from East Africa. Diagnosis and management are challenging everywhere but particularly in resource-constrained environments. Management strategies have changed over time. We sought to review DSD cases managed at our hospital and hypothesized that age at presentation would decline over time.

Materials and Methods

We performed a retrospective review of all patients who presented to our hospital between January 1, 2005 and July 31, 2018, with clinical findings of ambiguous genitalia and/or a diagnosis of DSD by pathologic testing of gonadal biopsy specimens. The study was approved as an exempted study by the Ethics Committee of our hospital (Aug 31, 2018, P. Halestrap, MD, Chair
– Kijabe Hospital IRB).
 

Figure 1 Patient Selection

     
Data collection
Data were collected from the patient electronic database (Access © 2007 Microsoft), the electronic pathology database (FileMaker Pro, 2019 Claris International Inc. Santa Clara, CA.), and operative case logs. These were searched for ambiguous genitalia, proximal hypospadias, intersex, DSD, gonadal biopsy, and diagnostic sinoscopy to identify patients for inclusion in the study (Figure 1)