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Disorders of sexual development
Published in Prem Puri, Newborn Surgery, 2017
To analyze the spectrum of gonads of the DSD patients that we treated and assess the incidence of germ cell tumors, we conducted a prospective and observational study of DSD patients who underwent gonadal surgery. Age, sex assigned, scale of external masculinization (EMS), karyotype, molecular analysis, surgical approach, and pathology of the gonads were analyzed. Patients were divided into three groups: chromosomal dysgenesis (G1), 46,XX gonadal dysgenesis (G2), and 46,XY gonadal dysgenesis (G3). More than half of the gonads were intra-abdominal and were treated laparoscopically using 3 or 5 mm instruments. All streak gonads were removed, avoiding previous biopsy. We always waited for the result of biopsy before removing any gonad other than a classical streak. An inguinal approach was indicated in patients with palpable gonads. We still prefer a laparoscopic approach in most of them as it not only enables better visualization of potential Mullerian structures but also allows for treatment of a patent peritoneal sac when removing the gonads, with better cosmetic results. In total, 94 patients with a mean age of 56.42 months (range, 2–216 months) were analyzed. Forty-eight patients (19 with Turner syndrome) with a mean age of 105 months (range, 2–216 months) were included in G1. The karyotype was 45,X0/46,XY in 87.5% of them. Male sex was assigned in 19, with a mean of 7.26 EMS (range, 1–10 EMS). Histological analysis of 89 gonads was completed, identifying 52 streak gonads, 32 dysgenetic testes, and 5 ovotestes. Six germinal cell tumors (GCTs) were found in four patients. Fifteen patients with a mean age of 27.6 months (range, 2–180 months) were included in G2. Male gender was assigned to six with a mean EMS of 6.82 (range, 4–8.5 EMS). Twenty-nine gonads were analyzed: 10 ovotestes, 15 dysgenetic testes, and 4 ovaries. Bilateral gonadoblastoma was found in a 6-month-old patient with bilateral ovotestes Mean age of the 31 patients in G3 was 69.71 months (range, 5–192 months). Five of them had an SF1 NR5A mutation, six a WT1, six a CAIS, and three a PAIS. A new mutation in the SRY (p.MET64VAL) gene was identified in two sisters. Male gender was assigned in 10 with a mean EMS of 4.52 (range, 1–10 EMS). Fifty-nine gonads were analyzed, identifying 41 dysgenetic testes, 10 streak gonads, and 8 testes, Eight GCTs were found in five patients (16%, seven in streak gonads and one in a dysgenetic testis).
Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology
Published in The Journal of Sex Research, 2021
Elena Bennecke, Birgit Köhler, Robert Röhle, Ute Thyen, Katharina Gehrmann, Peter Lee, Anna Nordenström, Peggy Cohen-Kettenis, Clair Bouvattier, Claudia Wiesemann
According to the Chicago consensus, conditions can be classified into three groups depending on karyotype and pathogenesis: sex chromosome DSD, XY DSD and XX DSD. Sex chromosome DSD includes mixed gonadal dysgenesis (46,XY/45,XO), 46,XY/46,XX conditions as well as Turner syndrome and Klinefelter syndrome. XY DSD incorporates XY gonadal dysgenesis, androgen insensitivity syndrome (AIS), disorders of androgen synthesis, disorders of AMH synthesis and action, and severe hypospadias. The XX DSD category includes congenital adrenal hyperplasia (CAH), XX gonadal dysgenesis, and uterine and vaginal anomalies. Thus, the umbrella term Disorders of Sex Development includes conditions with diverse genetic etiology, varying levels of prenatal androgen effects, and varying phenotypes of genitalia (Jürgensen et al., 2010). It is recognized that this is not an ideal classification as, for example, ovotesticular DSD karyotypes vary to a large degree and may be listed within any of the three categories.
Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature
Published in Journal of Obstetrics and Gynaecology, 2021
Lynn Opdecam, Jorge Barudy Vasquez, Michael Camerlinck, Amin Makar
Focussed physical examination and hormone profiles are necessary to distinguish MRKH syndrome from other disorders of sex development. In the presence of severe oestrogen deficiency, premature diagnosis of uterine agenesis should be avoided. An early and accurate diagnosis of 46, XX gonadal dysgenesis is important for the provision of proper long-term management and emotional support to the patient. Patients should be spared a devastating dual diagnosis of absent uterus and ovaries. With a normal-sized uterus after hormonal therapy, these patients may have a successful pregnancy with in vitro fertilisation using donor oocytes.