Clinical, hormonal and radiological profile of 46XY disorders of sexual development

Chauhan, Vasundhera; Jyotsna, Viveka P; Kandasamy, Devasenathipathy; Gupta, Nidhi

doi:10.4103/2230-8210.179999

Cited by 7 publications

(4 citation statements)

References 23 publications

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“…46XY DSD is a kind of testicular development disorder and androgen synthesis or function disorder. There are several subcategories of 46XY DSD, as follows [ 6 ]. Patients with complete or partial gonadal dysgenesis (CGD or PGD) have disorders of testicular development.…”

Section: Discussionmentioning

confidence: 99%

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Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

et al. 2021

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Background 46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or anatomical sex development. The patient in this case report had male and female genitalia simultaneously. We created a flowchart of the differential diagnosis for clinicians. Case presentation A 41-year-old male was admitted to the hospital complaining of lower quadrant abdominal pain for 1 day. Physical examination revealed that his penis size was normal, but a urethral orifice was located in the perineum area between the scrotum and anus. One small testicle was in the left scrotum, but no testicle was present on the right. The patient’s abdomen was bulging, and he had lower abdominal pain. According to the emergency CT scan, a lesion (74*65 mm) was found in the right pelvis between the bladder and rectum. The lesion showed an unclear boundary and hematocele appearance. The lesion was removed by emergency surgery, and the pathology report indicated a mixed germ cell tumor with a seminoma and yolk sac tumors. Conclusion This article is a case report of germ cell tumors in 46XY PGD patients. The literature review summarizes the clinical diagnosis, and a flowchart is provided for physicians in future practice. The importance of this report is that it will help acquaint physicians with this rare disease and make the right initial clinical decision quickly through the use of this flowchart. However, the variants of special subtypes of 46XY DSD are myriad, and all the diagnoses could not be covered in one flowchart.

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Section: Discussionmentioning

confidence: 99%

“…The most important diagnostic tool for 46XY, DSD, is hormone testing. For CGD patients, gonadotropin hormones (LH and FSH) are elevated in the absence of gonadal steroid production [ 6 ]. In comparison, although PGD patients have elevated gonadotropin, the gonadal steroid level depends on the degree of testicular tissue present [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

et al. 2021

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“…These data are consistent with the previously reported case series. [ 10 11 12 13 ] Androgen biosynthetic defect was the most commonly encountered diagnosis followed by AIS. Patients who were designated as AIS were the second commonest etiological group in our study.…”

Section: Discussionmentioning

confidence: 99%

“…In Chauhan Vasundhera et al . [ 11 ] study, all the patients were reared as males with an average EMS of 5.1 ± 3. The mean T/DHT ratio was 21.1.…”

Section: Discussionmentioning

confidence: 99%

“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study

Das

Saikia

et al. 2020

Indian J Endocr Metab

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Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns. Objective: To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients. Methods: A cross-sectional study was conducted after enrolling the eligible DSD patients. Thorough elicitation of history and detailed clinical examination was done. Assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH & Inhibin B (where indicated), and human chorionic gonadotropin stimulation were done as per protocol. Results: In total, 48 patients were included in the study. Ambiguous genitalia (58.3%) followed by hypospadias (33.3%) were common presentation. Androgen biosynthetic defect were the most commonly encountered diagnosis followed by androgen insensitivity syndrome (AIS). Swyer syndrome was diagnosed in 4.2% of cases; partial gonadal dysgenesis, ovotesticular DSD, and vanishing testis syndrome contributed to 2% of cases each. Eight cases (16.7%) who presented with isolated proximal and midshaft hypospadias for whom no diagnosis was found were categorized in the “etiology unclear” group. AR gene mutation analysis designed against specific exons did not yield any results. Conclusion: 46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. Most patients are reared as males and maintained the same gender identity except in isolated cases. Diagnosis of AIS remains a clinical challenge as a definite hormonal criterion does not exist and genetic mutations in AR gene may be negative. Flanking region sequencing, whole genome sequencing, and promoter region sequencing may reveal pathogenic variants. Variations in other genes regulating AR pathway may also be candidates to be studied.

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Sex Chromosome Abnormalities

Pappas

Migeon²

2017

Encyclopedia of Life Sciences

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In human subjects, the sex chromosomes are the X and the Y chromosomes. Normally, a complement of two X chromosomes (46,XX) is seen in females and one X and one Y (46,XY) in males. The X‐chromosome includes about 1500 genes, only a few of which are involved in sex development. The Y‐chromosome contains very few genes, but one gene, SRY , is the most important gene in male sex development. Multiple autosomal genes are also involved in sex development. Abnormalities of sex chromosomes can involve errors in the number of sex chromosomes, such as 45,X0 (Turner syndrome), 47,XXX, 47,XXY (Klinefelter syndrome), 47,XYY or mosaicism. Sex chromosome abnormalities also include aberrations of a single gene of the sex chromosome, leading to a disorder of sex development (DSD). This can result in 46,XX DSD and 46,XY DSD. Key Concepts Turner syndrome occurs when females have a missing sex chromosome (45,X0) or have a mosaic complement of cells with one or more lines missing a sex chromosome. Girls with Turner syndrome have a variety of congenital anomalies, the most striking being short stature and premature ovarian failure. Klinefelter syndrome boys (47,XXY) have tall stature, marfinoid habitus, and may have difficulty with language development and verbal IQ (intelligent quotient). 46,XY complete gonadal dysgenesis, or Swyer syndrome, describes patients who have both external and internal female organs with a 46,XY chromosome complement. 46,XY disorders of sex development encompass a wide range of disorders including androgen insensitivity, partial gonadal dysgenesis and many more. 46,XX disorders of sex development can result from a multitude of virilising disorders or the presence of Y‐chromosome material. Patients with disorders of sex development and intra‐abdominal gonads may be at risk for gonadoblastoma, depending on their underlying disorder. Assignment of sex, timing of surgery and medical management of patients with disorders of sex development is controversial.

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Clinical, hormonal and radiological profile of 46XY disorders of sexual development

Cited by 7 publications

References 23 publications

Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study

Sex Chromosome Abnormalities

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