The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos

Pesmatzoglou, Margarita; Kanaka‐Gantenbein, Christina; Dermentzoglou, Vasiliki; Voutetakis, Antonis; Nikaina, Irini; Skiathitou, Anna-Venetia; Siahanidou, Tania

doi:10.1016/j.jpag.2018.09.001

Cited by 1 publication

(1 citation statement)

References 10 publications

(14 reference statements)

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“…Likewise, the long‐term outcomes are limited regarding developmental, educational, and psychological implications including learning and intellectual disabilities, autism spectrum disorder, and anxiety disorder (Fontenelle et al, 2004; Telvi et al, 1999; Tosson et al, 2012). In addition, the sex of rearing has been identified as a challenge in this population, especially in those infants born with ambiguous genitalia (Houk et al, 2004; Man et al, 2022; Ocal et al, 2009; Pesmatzoglou et al, 2019; Rosa et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up

Alkhunaizi,

Albrecht,

Aarabi

et al. 2023

American J of Med Genetics Pt A

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Abstract45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated risk of gonadal tumors included small cohorts and limited follow‐up. To better describe the clinical manifestations and long‐term outcome of patients with 45,X/46,XY mosaicism. We conducted a retrospective chart review of patients with 45,X/46,XY from three health centers (Hospital for Sick Children and Mount Sinai Hospital in Canada, and University of Pittsburgh Medical Center in United States). Of 100 patients with 45,X/46,XY karyotype, 47 were raised as females and 53 as males. Females were significantly shorter than males (p = 0.04) and height Z‐score was significantly decreased with age for both genders (p = 0.02). Growth hormone (GH) treatment did not result in a significant height increase compared to the untreated group (p = 0.5). All females required puberty induction in contrast to majority of males. Five females were diagnosed with gonadal tumors, while no males were affected. Around 58% of patients exhibited at least one Turner syndrome stigmata. This study expands the clinical spectrum, long‐term outcomes, and associated tumor risk in a large cohort of patients with 45,X/46,XY mosaicism. Additionally, it highlights our experience with GH therapy and prophylactic gonadectomy.

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