The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: The role of laparoscopy and simple tests for gender identity

Chowdhury, Tanvir Kabir; Kabir, Mahfuzul; Chowdhury, Md. Zonaid; Hutson, John M.; Banu, Tahmina

doi:10.1016/j.jpurol.2014.06.021

Cited by 9 publications

(5 citation statements)

References 16 publications

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“…CAH management in developing countries is challenging. Newborn screening for CAH is not available in many developing countries (729,730), delaying diagnosis and increasing mortality, particularly in boys who lack atypical genitalia (731,732). Pediatric endocrinologists are scarce (560,730,733), and late referral to specialized centers may delay diagnosis and treatment.…”

Section: Cah In Developing Countries -Challenges and Limitationsmentioning

confidence: 99%

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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

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Section: Cah In Developing Countries -Challenges and Limitationsmentioning

confidence: 99%

“…Needed medications may be available only on the black market (137,556,733). Delayed diagnosis (557,734), emotional (731), and gender assignment problems (732,735) negatively influence quality of life (560,736).…”

Section: Cah In Developing Countries -Challenges and Limitationsmentioning

confidence: 99%

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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“…Several studies in developing countries also report challenges in identifying specific etiologies of DSD primarily due to lack in metabolic, hormonal and genetic workup; lack of specialists and centers with laboratories able to carry out diagnostic investigations. 29,30 Limitations to molecular confirmation of DSD are generally due to its cost and accessibility. 3 In our study, clinical parameters were used to suspect DSDs, but the absence of an etiologic diagnosis hinders streamlined management for these patients.…”

Section: Discussionmentioning

confidence: 99%

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Guerrero-Gonzalez¹,

Estrada²

2020

Acta Med Philipp

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Background. Disorders of Sex Development (DSD) are conditions that arise from an abnormality of the typical structural, chromosomal and/or gonadal characteristics of sex development. The incidence of DSD is not well established in the Philippines and there is no published local data. The complex nature of DSD requires streamlined multidisciplinary team management and guidelines from the 2006 Consensus meeting have become the standard of care for patients.Objective. The study describes the phenotype, biochemical, diagnostic and management profiles of patients with Disorders of Sex Development (DSD) excluding congenital adrenal hyperplasia (CAH) at the Philippine General Hospital, a tertiary care medical facility.Methods. Medical records of patients with DSD seen at the Division of Clinical Genetics from 2012-2016 were reviewed. Histories, demographic profiles, clinical features, co-existing health conditions, laboratory, imaging results, and interventions (medical or surgical) were recorded into a clinical report form.Results. Fifty-five (55) patient charts were included of all the patients with DSD listed in the registry. The neonatal period was the most common time DSD was first noted (69.09%). Most (58.18%) were assigned the male sex. The most common genital anomalies were hypospadias (45.45%), cryptorchidism (21.82%), and micropenis (12.73%). Associated health conditions included multiple congenital anomalies (32.73%), genitourinary with or without gastrointestinal anomalies (16.36%) and dysmorphic features (12.73%). Among 28patients with karyotypes, there were 12 patients with sex chromosome DSD; two 46, XX DSD and fourteen 46, XY DSD. Four patients were prescribed hydrocortisone, three of whom had higher levels of 17-OH progesterone beyond cut-off level (2 preterm, 1 full term) while 1 full term presented with genital ambiguity; one case of Klinefelter syndrome was given testosterone replacement. Ten patients underwent corrective surgery for urogenital anomalies. Repair of hypospadias was the most common procedure. Repairs of associated anomalies (neurologic, cardiac, gastrointestinal, genitourinary) were done in 6 patients.Conclusion. Complete history, meticulous physical examination and comprehensive investigations are important for the confirmation of DSDs. Uniform classification, use of standardized terminology, and proper documentation of findings are crucial for the integrated and appropriate management of these patients.

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“…Sex itself is a taboo in the country [30] , let alone the disorders related to sex. Hence, DSD, as an important issue, has been neglected for years [10] . A most important element in the care of these patients is the psychological support with utmost sensitivity required by families at first hand and then the patient and thus, cultural hindrances regarding DSD also hamper the management process.…”

Section: Discussionmentioning

confidence: 99%

“…However, another study showed that there has been unsuccessful sexual life of the treated patients [8] . A table of the literature reports on DSD with title, author and journal details is provided in Table 1 [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] .…”

Section: Introductionmentioning

confidence: 99%

Ambiguous genitalia–A social dilemma in Bangladesh: A case report

Chowdhury

Anwar

Saha

2018

International Journal of Surgery Case Reports

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HighlightsPhysical examination: Enlarged clitoris/micropenis, Bifid scrotum/labioscrotal fold, Separate urethral and vaginal orifices.USG: A rudimentary uterus with no ovary, the rt. testis in the mid inguinal canal, and lt. testis in the deep inguinal ring.Inj. Testosterone was given for consecutive 3 months followed by multiple surgeries at different settings.1st & 2nd stage of surgery: Seperation and closure of vaginal orifice, correction of chordee, and urethral plate was shaped.3rd stage of surgery: Urethroplasty, left orchiopexy and scrotal reconstruction were performed.

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The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: The role of laparoscopy and simple tests for gender identity

Cited by 9 publications

References 16 publications

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Ambiguous genitalia–A social dilemma in Bangladesh: A case report

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