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Differences of Sex Development (DSD) - How to Proceed Properly
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Differences of Sex Development (DSD) - How to Proceed Properly

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Global Health".

Deadline for manuscript submissions: closed (30 May 2021) | Viewed by 14955

Special Issue Editors

Prof. Dr. Aneta Gawlik

E-Mail Website
Guest Editor
Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, Katowice, Poland
Interests: congenital adrenal hyperplasia; disorder of sex development; Turner syndrome; PCOS
Special Issues, Collections and Topics in MDPI journals
Prof. Naomi Weintrob

E-Mail Website
Guest Editor
1. Dana Dwek Children's Hospital, Tel Aviv Medical Center, Tel-Aviv, Israel
2. Associate Clinical Professor in Pediatrics, Sackler's School Of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Interests: adrenal; congenital adrenal hyperplasia; DSD
Dr. Ivonne Bedei

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, University Giessen and Marburg, Klinikstrasse 33, 35392 Giessen, Germany
Interests: prenatal/early postnatal detection of Turner syndrome; CAH (prenatal treatment); fetal therapy

Special Issue Information

Dear Colleagues,

The differences of sex development (DSD) are heterogeneous, congenital, and mostly rare conditions affecting phenotype, gender identity, the urogenital tract, and the reproductive system. Approximately one in 4500–5500 children are born within some spectrum of DSD, and even though there exists a globally used classification to categorize DSD patients, each one needs an individual approach.

The discussion on the proper management of DSD patients, mostly newborn, is currently very lively. The most controversial topics are sex assignment, the significance of molecular diagnosis in the context of genotype–phenotype correlation, and irreversible surgery procedures during childhood in those with highly predictable gender identity. The registration of sex in some newborns with DSD, despite the advances in molecular technologies, can still be considered a formidable challenge. In even half of those with 46,XY DSD the final diagnosis is not certain. Those with Y chromosome additionally have a variable risk of developing a gonadal cell cancer. This is significantly higher in patients with gonadal dysgenesis, and increases with age.

In specific groups of DSD, the coexistence of particular co-morbidities should be considered, and so a detailed clinical assessment is recommended (e.g., cardiac defects in patients with 45,X/46,XY). Finally, it is worth discussing the optimal hormonal replacement therapy in all DSD patients who require this type of support.

The diagnosis and plan for the treatment of DSD individuals should be established as quickly as possible, although without rush. It should not be a single-doctor diagnosis, but a consensual decision made by an experienced multidisciplinary team (MDT) consisting of endocrinologists, urologists, geneticists, psychologists, pediatric gynecologists, rentgenologists, and clinical sexologists, with access to ethical and legal advice. From the perspective of patients and their families, it would be optimal to organize this interdisciplinary consilium in one clinical center. However, the access to such a team varies between countries.

Prof. Aneta Gawlik
Prof. Naomi Weintrob
Dr. Ivonne Bedei
Guest Editors

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Keywords

  • disorders/differences of sex development (DSD)

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Published Papers (4 papers)

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12 pages, 335 KiB  
Article
Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature
by Sahra Steinmacher, Sara Y. Brucker, Andrina Kölle, Bernhard Krämer, Dorit Schöller and Katharina Rall
Int. J. Environ. Res. Public Health 2021, 18(11), 5648; https://doi.org/10.3390/ijerph18115648 - 25 May 2021
Cited by 6 | Viewed by 2502
Abstract
The risk of gonadal germ cell tumors is increased over the lifetime of patients with XY-disorders of sex development (XY-DSD). The aim of this study was to evaluate clinical features and histopathological outcome after gonadectomy in patients with XY-DSD to assess the risk [...] Read more.
The risk of gonadal germ cell tumors is increased over the lifetime of patients with XY-disorders of sex development (XY-DSD). The aim of this study was to evaluate clinical features and histopathological outcome after gonadectomy in patients with XY-DSD to assess the risk of malignant transformation to gonadal germ cell tumors. Thirty-five women treated for XY-DSD at our hospital between 2003 and 2020 were enrolled in this study. Twenty-seven (77%) underwent prophylactic gonadectomy, 10 (29%) at our department and 17 (48%) at external hospitals. Eight (23%) patients didn’t receive gonadectomy. Of the patients who underwent a surgical procedure at our hospital, two patients were diagnosed with a unilateral seminoma, one patient with a bilateral and one patient with a unilateral Sertoli cell adenoma. According to these findings, preventive gonadectomy in patients with XY-DSD should be taken into consideration. Guidelines concerning the necessity of gonadectomy to avoid malignant transformation are still lacking. The risk of malignant germ cell tumors from rudimentary gonads has not been investigated sufficiently to date, as it is mostly based on case series due to the rarity of the condition. In our study we retrospectively analyzed patients who partly underwent bilateral gonadectomy, aiming to fill this gap. Concerning the ideal point of time for gonadectomy, further studies with a higher number of patients are needed. Full article
(This article belongs to the Special Issue Differences of Sex Development (DSD) - How to Proceed Properly)
19 pages, 364 KiB  
Article
Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line
by Bauke Debo, Marlies Van Loocke, Katya De Groote, Els De Leenheer and Martine Cools
Int. J. Environ. Res. Public Health 2021, 18(3), 917; https://doi.org/10.3390/ijerph18030917 - 21 Jan 2021
Cited by 6 | Viewed by 2788
Abstract
Children born with sex chromosomal mosaicism including material derived from the Y chromosome may present with a broad phenotypical spectrum. Both boys and girls can present with Turner features and functional health problems typically associated with Turner syndrome, but the presence of Y-chromosomal [...] Read more.
Children born with sex chromosomal mosaicism including material derived from the Y chromosome may present with a broad phenotypical spectrum. Both boys and girls can present with Turner features and functional health problems typically associated with Turner syndrome, but the presence of Y-chromosomal material can modify some aspects of the condition. We retrospectively analyzed the results of our cohort of 21 individuals (14 boys, 7 girls) with sex chromosomal mosaicism including Y-derived material followed at Ghent University Hospital according to our local multidisciplinary Turner surveillance protocol. Results were compared with literature data, focusing on similarities and differences between girls and boys with this condition. Age at diagnosis was lower in boys compared to girls but the difference was not significant. Short stature is a key feature of the condition both in girls and boys, but skeletal maturation may be different between groups. The effects of growth-hormone therapy remain unclear. Cardiac (33%), ear-nose- throat (ENT) (77.8%) and renal (28.6%) problems were as prevalent in boys as in girls from our cohort, and did not differ from literature data. In line with literature reports, a significant difference in the presence of premalignant germ cell tumors between males (0%) and females (42.9%) was found (p = 0.026). Taken together, this study demonstrates the similarities between girls with Turner syndrome and children with sex chromosomal mosaicism including Y-derived material, regardless of the child’s gender. Nowadays, girls with Turner syndrome are offered a dedicated multidisciplinary follow-up in many centers. We advocate a similar follow-up program for all children who have sex chromosomal mosaicism that includes Y-derived material, with special attention to growth, cardiac and ear-nose-throat problems, gonadal function and malignancies. Full article
(This article belongs to the Special Issue Differences of Sex Development (DSD) - How to Proceed Properly)
8 pages, 1344 KiB  
Communication
Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)—Analysis of Unified Surgical Management
by Grzegorz Kudela, Aneta Gawlik and Tomasz Koszutski
Int. J. Environ. Res. Public Health 2020, 17(11), 3852; https://doi.org/10.3390/ijerph17113852 - 29 May 2020
Cited by 10 | Viewed by 5869
Abstract
Aim: To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH). Methods: Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed. Results: A total of [...] Read more.
Aim: To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH). Methods: Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed. Results: A total of 31 girls aged from 4 months to 10 years were included in the study. The majority (n = 26/31, 84%) were operated before 2 years of age (median 8 months). External virilization was rated as Prader 3 (n = 7/31), Prader 4 (n = 21/31) and Prader 5 (n = 3/31). The urethrovaginal confluence location was low in 19 and high in 12 girls with a percentage distribution similar in Prader 4 and 5 (p > 0.05) but significantly different in Prader 3 (p = 0.017). The follow-up ranged from 12 months to 15 years. All parents assessed the cosmetic result as satisfactory. Perioperative complications occurred in two patients and included rectal injury (n = 1/31) and prolonged bleeding (n = 1/31). Three patients developed late complications including labial atheromas (n = 2/31) and vaginal stricture requiring surgical dilatation (n = 1/31). Low confluence did not decrease the risk of complications. Conclusions: Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients’ satisfaction. Full article
(This article belongs to the Special Issue Differences of Sex Development (DSD) - How to Proceed Properly)
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7 pages, 1572 KiB  
Case Report
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
by Pawel Matusik, Agnieszka Gach, Olimpia Zajdel-Cwynar, Iwona Pinkier, Grzegorz Kudela and Aneta Gawlik
Int. J. Environ. Res. Public Health 2021, 18(13), 7186; https://doi.org/10.3390/ijerph18137186 - 5 Jul 2021
Cited by 5 | Viewed by 2975
Abstract
A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of [...] Read more.
A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed primary adrenocortical insufficiency and steroid profiles showed lack of products of steroidogenesis, and since then the patient has been treated with substitution doses of hydrocortisone and fludrocortisone. At the age of 14, considering the absence of puberty symptoms, extended diagnostic tests revealed elevated LH levels (26.5 mIU/mL) with pre-puberty FSH levels (4.9 mIU/mL), low estradiol (28 pmol/L), testosterone (<2.5 ng/mL), and extremely high levels of ACTH (4961 pg/mL). A cytogenetic study revealed a 46 XY karyotype. A molecular examination confirmed the missense mutation and a novel splice-site mutation of CYP11A1 gene. Compound heterozygosity for the CYP11A1 gene with a known pathogenic variant in one allele and a novel splice site mutation in the second allele is most probably responsible for congenital adrenal insufficiency with 46,XY sex reversal. We discuss the necessity of cytogenetic test in the case of early onset of adrenal failure in the absence of steroidogenesis metabolites in the steroid profile. Full article
(This article belongs to the Special Issue Differences of Sex Development (DSD) - How to Proceed Properly)
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