Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience

Shamma, Radwa; Atef, Shimaa; Arafa, Noha

doi:10.5603/ep.a2021.0045

Cited by 3 publications

(3 citation statements)

References 25 publications

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“…These results were consistent with other studies. (16,(21)(22)(23) Six patients (19.3%) with 46, XXDSD had 11 beta deficiency. It is important to diagnose these children early so that they can receive treatment in order to avoid severe virilization, hirsutism, short stature, and premature pubarche.…”

Section: Discussionmentioning

confidence: 99%

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Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

Ordooei¹,

Amouei²,

Mirjalili³

et al. 2022

WJPN

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Background: Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia Methods: This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study with the exception of five patients since they did not have a final diagnosis of ambiguous genitalia. Results: Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguity as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD. Conclusion: Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.

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Section: Discussionmentioning

confidence: 99%

“…In contrast, 46, XYDSD was the commonest type of DSD in other reports. [15][16][17] The etiological classification of the patients is portrayed in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

Ordooei¹,

Amouei²,

Mirjalili³

et al. 2022

WJPN

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“…Patients with 46,XY DSD present with various clinical manifestations and complex pathogenesis, which increases the difficulty of diagnosis (24,25). To understand the diagnosis and pathogenesis and to improve the infertility consequences for patients, research is needed to expand the phenotype and genotype (26).…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Tang

Chen

Wang

et al. 2023

Endocrine Connections

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Diagnosis and management strategy of Disorders of sex development (DSD) is difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanism has been identified and proposed as genetic causes of 46, XY DSD. In this study, 178 46, XY DSD pa-tients were enrolled and underwent gene sequencing (either whole-exome sequencing or targeted panel gene sequencing). Detailed clinical phenotype and genotype information were summarized which showed that the most common clinical manifestations were micropenis (56.74%, 101/178), cryptorchidism (34.27%, 61/178), and hypospadias (17.42%, 31/178). Androgen synthesis/action disorders and idiopathic hypogonado-tropic hypogonadism were the most frequent clinical diagnoses, accounting respectively for 40.9% and 21.59%. From all next-generation sequencing results, 103 candidate var-iants distributed across 32 genes were identified in 88 patients. The overall molecular detection rate was 49.44% (88/178), including 35.96% (64/178) pathogenic/likely pathogenic (P/LP) variants and 13.48% (24/178) VUS (variants of uncertain significance). Of all, 19.42% (20/103) variants were first reported in 46, XY DSD patients. Mutation c.680G>A (p.R227Q) on SRD5A2 (Steroid 5 Alpha-reductase 2) (36.67%, 11/30) was a hotspot mutation in Chinese population. Novel candidate genes related to DSD [GHR (Growth Hormone Receptor), PHIP (Pleckstrin Homology domain Interacting Protein)] were identified. Overall, this was a large cohort of 46, XY DSD patients with a com-mon clinical classification and phenotype spectrum of Chinese patients. Targeted gene panel sequencing (TPS) covered most of the genes contributing to DSD, whereas whole exome sequencing (WES) detected more candidate genes.

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Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Nagarajaiah,

Bhuyan,

Baro

et al. 2024

Indian Journal of Endocrinology and Metabolism

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Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignment at birth. Methods: This retrospective study included the records of people with DSD presenting to a tertiary centre over 10 years. The age at presentation, sex assignment, gender identity, degree of ambiguity, pertinent hormonal and radiological investigations were noted. Descriptive statistics were used for analysis. Results: The age of presentation varied widely, with peaks during infancy and puberty. The most prevalent DSD type was 46, XY DSD (61.2%), followed by 46, XX DSD (19.7%) and sex chromosome DSD (19.1%). Among people with 46, XY DSD, androgen biosynthesis disorders were dominant, particularly 5-a reductase 2 deficiency (46.7%). Among 46, XX DSDs, the most common subtype was androgen excess disorders (51.7%) comprising 21a-hydroxylase deficiency (48,3%) and 11β-hydroxylase deficiency (3.4%). Turner syndrome was most prevalent among sex chromosome DSD (71.4%) with others being Klinefelter syndrome, 45, XO/46, XY mixed gonadal dysgenesis and 46, XX/46, XY chimerism. The degree of ambiguity was variable depending on the type of DSD and similarly, sex assignment at birth was influenced by the level of ambiguity. Conclusion: The study underscores the significance of comprehensive approaches for DSD diagnosis and management, especially in regions with limited resources. The insights gained from this clinical study offer valuable understanding and aid in addressing the complexities associated with these conditions.

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Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience

Cited by 3 publications

References 25 publications

Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

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