Turner syndrome and neuropsychological abnormalities: a review and case series

Guaraná, Bruna Baierle; Nunes, Marcela Rodrigues; Muniz, Victória Feitosa; Diniz, Bruna Lixinski; Nunes, Maurício Rouvel; Böttcher, Ana Kalise; Rosa, Rafael Fabiano Machado; Mergener, Rafaella; Zen, Paulo Ricardo Gazzola

doi:10.1590/1984-0462/2025/43/2023199

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Original Article • Rev. paul. pediatr. 43 • 2025 • https://doi.org/10.1590/1984-0462/2025/43/2023199 linkcopy

Turner syndrome and neuropsychological abnormalities: a review and case series

Síndrome de Turner e alterações neuropsicológicas: uma revisão e série de casos

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS).

Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases.

Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies.

Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.

Keywords:
Turner syndrome; Neurodevelopmental delay; Intellectual disability; Learning disabilities; Monosomy X

	Patient	Age	Main features	Karyotype
Our sample	P1	2 y	Seizures	45,X
	P2	11 m	Seizures	45,X
	P3	24 y	Learning/cognitive disability	45,X
	P4	14 y	Delayed neuropsychomotor development	45,X
	P5	18 y	Seizures	45,X/46,XX
	P6	9 y	Seizures	45,X/46,X+mar
	P7	9 y	Learning/cognitive disability	45,X/46,X+mar
	P8	16 y	Learning/cognitive disability	45,X/46,X,i(X)(q10)
	P9	18 y	Learning/cognitive disability	46,X,i(X)(q10)
	P10	34 y	Seizures Acute facial palsy Depression	46,X, del(Xq24q28)

Study	Patient	Age	Main features	Karyotype
Hu et al.¹⁹	P1	10 y	Learning/cognitive disability Skin pigmentation	mos 46,X,r(X)p22q32)[0.60]/45,X[0.40]
	P2	13 y	Learning/cognitive disability Delayed neuropsychomotor development	mos 46,XX[20]/46,r(X)(p22q22)[80]
	P3	13 y	Learning/cognitive disability Kabuki make-up syndrome Dysmorphic facial features Skeletal abnormalities Unusual dermatologic patterns	mos 45,X/46,X,r(X)
Kostopoulou et al.²⁰	P1	1 y	ASD	45,X,15/46,X,i(X)
	P2	1 d	ADHD	45,X
	P3	4 m	Seizures, Hydrocephalus Spina bifida Myelomeningocele Vit B12 deficiency	46,X,r(X)(p11q13)[22]/45,X[8]
	P4	1 d	Hydrocephalus Meningitis-septicemia Cerebral necrosis	46X, deletion (X)(p11.2)
Jhang et al.²¹	P1	49 y	Learning/cognitive disability Seizures Ventricular asymmetry White matter hyperintensity	45,X[2]/47,XXX[1]/46,XX[27]
Santana Hernández et al.²²	P1	22 y	Mild learning/cognitive disability	46,XX/45,X

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[1] P: patient; y: years; m: months.