Ovotesticular Differences of Sex Development: Surgery or Not Surgery? That Is the Question

Scarpa, Maria Grazia

doi:10.3389/fped.2017.00231

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…Timing of surgery remains controversial 14 . In our cohort, genitoplasty and gonad surgery were mostly carried out as early as possible after diagnosis, until 2015.…”

Section: Discussionmentioning

confidence: 99%

“…Very few studies with a specific attention to 46,XX SRY ‐negative T/OTDSD have reported the medical and surgical management of these patients as well as long‐term outcomes 11‐13 . Particularly, timing of surgery is controversial in the management of OTDSD patients 14 . Recent studies also suggest the possibility of development of gender dysphoria in these patients 15 .…”

Section: Introductionmentioning

confidence: 99%

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SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Lambert

Peycelon

Samara-Boustani

et al. 2020

Clinical Endocrinology

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Objective SRY‐negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long‐term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. Design Retrospective description of sixteen 46,XX T/OTDSD patients. Results Sixteen 46,XX SRY‐negative T/OTDSD were included. Most (12/16) were diagnosed in the neonatal period. Sex of rearing was male for six patients and female for ten, while the clinical presentation varied, with an external masculinization score from 1 to 10. Five patients raised as girl were successfully treated with GnRH analog to avoid virilization during minipuberty. Ovotestes/testes were found bilaterally for 54% of the patients and unilaterally for the others (with a contralateral ovary). Gonadal surgery preserved appropriate tissue in the majority of cases. Spontaneous puberty occurred in two girls and one boy, while two boys required hormonal induction of puberty. One of the girls conceived spontaneously and had an uneventful pregnancy. DNA analyses (SNP‐array, next‐generation sequencing and whole‐exome sequencing) were performed. A heterozygous frameshit mutation in the NR2F2 gene was identified in one patient. Conclusions This study presents a population of patients with 46,XX SRY‐negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls.

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“…Timing of surgery remains controversial 14 . In our cohort, genitoplasty and gonad surgery were mostly carried out as early as possible after diagnosis, until 2015.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Lambert

Peycelon

Samara-Boustani

et al. 2020

Clinical Endocrinology

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“…Differential diagnosis of 46, XX testicular DSD, which is 46, XX karyotype and phenotypic males with testes, is ovotesticular DSD (Grinspon & Rey, 2016). Early gonadectomy for one option may be considered since gonadal tumors with malignant potential occur in approximately 3% of all cases of ovotesticular DSD containing Y materials, although the recent international trend is to wait for surgery until becoming an adult (Scarpa, 2017), giving importance to an exclusion diagnosis. In comparison to 46, XX testicular DSD, ambiguous genitalia is the common manifestation in 90% of the cases and normal genitalia is in 10% of the cases (Sultan et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor

et al. 2020

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The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We reported a gonadal tumor in a phenotypically male individual with 46, XX testicular DSD. A testicular tumor was incidentally found in a 32-year-old phenotypic male who was presented to the hospital with male infertility. A diagnosis of 46, XX testicular DSD was made by the presentation of karyotype analysis of 46, XX with the sex-determining region of the Y chromosome (SRY) positive and gonadal tissue without female gonads. Surgery was performed due to a gradually growing tumor. The partial orchidectomy was performed with the diagnosis of a benign Leydig cell tumor in frozen biopsy.

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“…Although the clinical presentation is highly variable, the external genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, and infertility are frequently associated and confer a relatively low risk of germ cell malignancy relative to other DSDs such as gonadal dysgenesis [Lee et al, 2006;Becker and Akhavan, 2016;Scarpa, 2017].…”

Section: Discussion/conclusionmentioning

confidence: 99%

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

Manotas

García-Acero

González

et al. 2020

Sex Dev

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Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

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Ovotesticular Differences of Sex Development: Surgery or Not Surgery? That Is the Question

Cited by 5 publications

References 10 publications

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

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