Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis

Nistal, Manuel; Paniagua, Ricardo; González‐Peramato, Pilar; Reyes‐Múgica, Miguel

doi:10.2350/14-04-1471-pb.1

Cited by 22 publications

(17 citation statements)

References 233 publications

(240 reference statements)

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“…In this putative fetal stage of tissue development, germ cells reside apparently randomly distributed in an ovarian-like stroma or are arranged in primitive cord-like structures of immature supportive cells without forming ovarian follicles or testicular seminiferous cords ( Fig. 2 ) [Nistal et al, 2014a]. UGT is thought to be the precursor lesion for GB development [Cools et al, 2006b].…”

Section: Embryonic Formation Of Testis and Ovarymentioning

confidence: 99%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a ‘genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.

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Section: Embryonic Formation Of Testis and Ovarymentioning

confidence: 99%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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“…Seventeen of these patients (85%) were gonadectomized, and gonadoblastoma was found in 6 (35.3%). According to the classification of streak gonads [24][25][26], in our series, we found 9 cases of classic streak gonads, 7 of streak gonads with epithelial cord-like structures, and 1 streak testis. In the first group, we found an association between gonadoblastoma and dysgermino ma in 1 case, and in the second group, we found 5 gonadoblastomas and the coexistence in 1 of these cases of a dysgerminoma and an embryonal carcinoma.…”

Section: Discussionmentioning

confidence: 98%

Gonadoblastoma in Patients with Ullrich-Turner Syndrome

et al. 2015

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Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.

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“…In the ovary the number of GCs decreases beginning prenatally and throughout childhood, 19–21 such that by menarche virtually all GCs (follicles) are restricted to a narrow strip of cortex. Few studies have assessed testicular GC variability with age 12,13,22 but they demonstrate a prepubertal rise in testicular GC numbers, which is maintained into adulthood.…”

Section: Discussionmentioning

confidence: 99%

“…The gonads of patients with CAIS have a testicular morphology, often with Sertoli cell adenomas and/or hamartomatous nodules distorting the histological architecture. 8,11,13 In this study GC assessment was performed on the compressed testicular tissue found between these nodules.…”

Section: Methodsmentioning

confidence: 99%

Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation

et al. 2017

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Purpose We sought to determine the presence of germ cells in the gonads of patients with disorders of sex development to establish whether preservation of germ cells for future fertility potential is possible. We hypothesized that germ cells are present but vary by age and diagnosis. Materials and Methods We reviewed histology from patients with disorders of sex development who underwent gonadectomy/biopsy from 2002 to 2014 at a single institution for pathological classification of the gonad, composition of gonadal stroma and germ cell presence. Results A total of 44 patients were identified and germ cells were present in 68%. The presence and average number of germ cells per mm2 were analyzed by gonad type and diagnosis. By gonad type all ovotestes, most testes, ovaries and dysgenetic testes, and 15% of streak gonads had germ cells present. By diagnosis germ cells were present in all patients with complete androgen insensitivity syndrome, Denys-Drash syndrome, SRY mutation, mixed gonadal dysgenesis, ovotesticular conditions and StAR (steroid acute regulatory protein) deficiency, in some patients with persistent müllerian duct syndrome, XO/XY Turner syndrome and disorders of sex development not otherwise specified, and in none with complete or partial gonadal dysgenesis. Germ cells were present in the gonads of 88% of patients 0 to 3 years old, 50% of those 4 to 11 years old and 43% of those older than 12 years. Conclusions Germ cells were present in the majority of our cohort and the presence decreased with age. This novel, fertility driven evaluation of germ cell quantity in a variety of disorders of sex development suggests that fertility potential may be greater than previously thought. Further studies must be done to evaluate a larger population and examine germ cell quality to determine the viability of these germ cells.

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Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis

Cited by 22 publications

References 233 publications

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Gonadoblastoma in Patients with Ullrich-Turner Syndrome

Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation

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