Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report

Jodoin, Andréanne; Marchand, Maud; Beltrand, Jacques

doi:10.1515/jpem-2022-0268

Cited by 2 publications

(4 citation statements)

References 10 publications

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“…Only one case of female primary gonadal failure in patients affected by WS has been described in literature so far, as reported by Jodoin et al. in a young adolescent patient ( 23 ). To determine if a correlation between the genotype and the type and onset of clinical manifestations in WS exists, also including sexual development issues, is complicated by the rarity of the disease.…”

Section: Discussionmentioning

confidence: 95%

“…Females may often generally present with primary amenorrhoea ( 22 ). Interestingly, the first case of primary hypergonadotropic hypogonadism in a female patient with confirmed WFS1-SD has been recently described in a 16 year adolescent ( 23 ). Pubertal delay is often observed in WFS1-SD adolescents alongside growth delay due to hypopituitarism ( 15 , 23 ).…”

Section: Introductionmentioning

confidence: 99%

“…Interestingly, the first case of primary hypergonadotropic hypogonadism in a female patient with confirmed WFS1-SD has been recently described in a 16 year adolescent ( 23 ). Pubertal delay is often observed in WFS1-SD adolescents alongside growth delay due to hypopituitarism ( 15 , 23 ). Nevertheless, cases of successful pregnancy and delivery exist and first reports of male fertility date back to a decade ago ( 15 , 24 , 25 ).…”

Section: Introductionmentioning

confidence: 99%

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Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

et al. 2023

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AimsWolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. Gonadal dysfunction (GD) has been described mainly in adults with variable prevalence and referred to as a minor clinical feature. This is the first case series investigating gonadal function in a small cohort of paediatric patients affected by WFS1-SD.MethodsGonadal function was investigated in eight patients (3 male and 5 female) between 3 and 16 years of age. Seven patients have been diagnosed with classic WFS1-SD and one with non-classic WFS1-SD. Gonadotropin and sex hormone levels were monitored, as well as markers of gonadal reserve (inhibin-B and anti-Mullerian hormone). Pubertal progression was assessed according to Tanner staging.ResultsPrimary hypogonadism was diagnosed in 50% of patients (n=4), more specifically 67% (n=2) of males and 40% of females (n=2). Pubertal delay was observed in one female patient. These data confirm that gonadal dysfunction may be a frequent and underdiagnosed clinical feature in WFS1-SD.ConclusionsGD may represent a frequent and earlier than previously described feature in WFS1-SD with repercussions on morbidity and quality of life. Consequently, we suggest that GD should be included amongst clinical diagnostic criteria for WFS1-SD, as has already been proposed for urinary dysfunction. Considering the heterogeneous and elusive presentation of WFS1-SD, this clinical feature may assist in an earlier diagnosis and timely follow-up and care of treatable associated diseases (i.e. insulin and sex hormone replacement) in these young patients.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

et al. 2023

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“…The reason for this selective gonadal axis involvement in males with WS1 is not well understood. Very recently, a case of an adolescent girl with hypergonadotropic hypogonadism has been described [ 66 ].…”

Section: Less Frequent Endocrine Featuresmentioning

confidence: 99%

Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective

Serbis

Rallis

Giapros

et al. 2023

IJMS

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Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in WFS1 and WFS2 genes that produce wolframin, a protein involved in endoplasmic reticulum calcium homeostasis and cellular apoptosis. Its main clinical features are diabetes insipidus (DI), early-onset non-autoimmune insulin-dependent diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA) and deafness (D), hence the acronym DIDMOAD. Several other features from different systems have been reported such as urinary tract, neurological, and psychiatric abnormalities. In addition, endocrine disorders that can appear during childhood and adolescence include primary gonadal atrophy and hypergonadotropic hypogonadism in males and menstrual cycle abnormalities in females. Further, anterior pituitary dysfunction with deficient GH and/or ACTH production have been described. Despite the lack of specific treatment for the disease and its poor life expectancy, early diagnosis and supportive care is important for timely identifying and adequately managing its progressive symptoms. The current narrative review focuses on the pathophysiology and the clinical features of the disease, with a special emphasis on its endocrine abnormalities that appear during childhood and adolescence. Further, therapeutic interventions that have been proven to be effective in the management of WS1 endocrine complications are discussed.

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Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report

Cited by 2 publications

References 10 publications

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective

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