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. 2023 Jan 6:13:1072399.
doi: 10.3389/fendo.2022.1072399. eCollection 2022.

Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B

Shereen Abdelghaffar  1 , Engy Nasr AbdelMoneam  1 , Samah A Hassanein  1 , Noha Abdelhalim Radwan  2 , Marwa Farouk Mira  1
Affiliations

Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B

Shereen Abdelghaffar et al. Front Endocrinol (Lausanne). .

Abstract

Background: Differences of sex development (DSD) are congenital conditions linked to atypical development of chromosomal, gonadal, or anatomical sex.

Objective: The aim of this study was to demonstrate our experiences at the Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU), Faculty of Medicine, Cairo University in the field of DSD by focusing on the clinical presentation, laboratory profile, classification, and etiological diagnosis of these conditions. In addition, the present study intended to delineate the importance of serum anti-Müllerian hormone (AMH) and inhibin B in detecting the presence of functioning testicular tissue.

Methods: This cohort study included 451 infants and children with various clinical presentations of DSD. The study performed a retrospective analysis on medical records of established DSD cases to evaluate the clinical importance of AMH and inhibin B. In addition, newly diagnosed patients were prospectively analyzed.

Results: Three hundred thirty-six (74.5%) patients were 46,XY DSD, 98 (21.7%) were 46,XX DSD, 14 patients had other karyotypes and 3 had missing karyotypes. Among the 46XY DSD patients, the most common cause was partial androgen insensitivity. In contrast, congenital adrenal hyperplasia constituted the most common diagnosis in 46,XX DSD cases. The cut off value of serum AMH was 14.5 ng/ml with 100% sensitivity and 55.1% specificity.

Conclusion: Partial androgen insensitivity was the most important cause of 46,XY DSD in Egyptian children, and congenital adrenal hyperplasia was the most common cause of 46,XX DSD. AMH was valuable in detecting functioning testicular tissue.

Keywords: androgen insensitivity syndromes; anti-mullerian hormone; atypical genitalia; congenital adrenal hyperplasia; differences of sex development; inhibin B.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Etiological classification of cases of DSD. CAH, congenital adrenal hyperplasia; CAIS, complete androgen insensitivity; DSD, differences of sex development; PAIS, partial androgen insensitivity; POR CAH, P450 oxidoreductase deficiency.
Figure 2
Figure 2
ROC curve indicating the specificity and sensitivity of AMH in detecting functioning testicular tissue. AMH, antimullerian hormone.
Figure 3
Figure 3
Correlation between AMH and post-HCG testosterone levels. AMH, antimullerian hormone; testosterone post: post-human chorionic gonadotropin test stimulation; p< 0.05 was considered significant.
See this image and copyright information in PMC

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References

    1. Lee PA, Nordenstr¨om A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. . Global DSD update consortium. global disorders of sex development update since 2006: perceptions, approach, and care. Horm Res Paediatr (2016) 85:158–80. doi: 10.1159/000442975 - DOI - PubMed
    1. Manzoor J, Aftab S, Yaqoob M. Ambiguous genitalia: an overview of 7 years experience at the children’s hospital & institute of child health, Lahore, Pakistan. Pak J Med Sci (2019) 35:151–5. doi: 10.12669/pjms.35.1.289 - DOI - PMC - PubMed
    1. Bashamboo A, Mcelreavey K. Consanguinity and disorders of sex development. Hum Hered (2014) 77:108–17. doi: 10.1159/000360763 - DOI - PubMed
    1. Mazen I, Hiort O, Bassiouny R, El Gammal M. Differential diagnosis of disorders of sex development in Egypt. Horm Res (2008) 70:118–23. doi: 10.1159/000137657 - DOI - PubMed
    1. Mehmood KT, Rentea RM. Ambiguous genitalia and disorders of sexual differentiation. In: StatPearls. Treasure Island (FL: StatPearls Publishing; (2021). - PubMed

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