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Review
. 2019 Jul-Sep;24(3):162-169.
doi: 10.4103/jiaps.JIAPS_70_18.

A Clinical Approach to Diagnosis of Ambiguous Genitalia

Kashish Khanna  1 , Shilpa Sharma  1 , Devendra K Gupta  1
Affiliations
Review

A Clinical Approach to Diagnosis of Ambiguous Genitalia

Kashish Khanna et al. J Indian Assoc Pediatr Surg. 2019 Jul-Sep.

Abstract

Disorders of sex development (DSD) are a sensitive and stressful condition for the family as well as the treating physician to deal with. The main issue in managing such cases is sex assignment. The decision is influenced by the cultural background, the sex of rearing, clinical features, the biochemical parameters including hormonal studies, the imaging reports, parental preference, fertility potential, and the assessment of mental make-up of the child when possible. In third world countries, there is diagnostic dilemma as most children with DSD present late and a detailed-lengthy work-up often delay their definitive treatment. In this article, the authors try to identify the important clinical features in children presenting with various types of DSD, which may aid in making a quick provisional clinical diagnosis and expediting the diagnostic work-up. The data have been gathered from 38 years of experience of the senior author while managing about 1200 cases of DSD in the pediatric intersex clinic at the tertiary care level institute.

Keywords: Clinical features; differences in sex development; discordant; disorders of sex development; genital ambiguity; intersex; sex differentiation.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Congenital adrenal hyperplasia: 12-year-old girl presented with virilization, clitoromegaly, hyper-pigmentation and excessive pubic hair; (b) Mixed gonadal dysgenesis: Cylindrical and small phallus, perineal hypospadias, deficient prepuce, penoscrotal transposition and undescended gonads (original)
Figure 2
Figure 2
(a) Complete androgen insensitivity syndrome: 4-months baby, reared as girl, small clitoris, well-developed labial folds, but both gonads descended and 46,XY karyotype; (b) 5-alpha-reductase deficiency: Small phallus, bifid scrotum, cryptorchidism, and perineal hypospadias (original)
Figure 3
Figure 3
(a) True hermaphrodite: triangular phallus, right descended gonad with dual consistency, severe hypospadias, and wide urethral meatus with mucosa lining the urethral plate. (b) A 16-year-old patient postrepair of hypospadias and undescended testes, presented with pain and lump per abdomen, cyclic hematuria, and postpubertal breast development; Retrograde genitogram showed the presence of uterus (original)
Figure 4
Figure 4
Guide to reach the provisional clinical diagnosis in a case of disorders of sex development (original)
See this image and copyright information in PMC

References

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