Primary Hypogonadism in Two Siblings With Wolfram Syndrome

Homan, M.; MacKay, Bruce R.

doi:10.2337/diacare.10.5.664

Cited by 9 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Signs of hypogonadism have frequently been found in association with WFS (7,9,10,29,37,45). However, hypogonadism in WFS has been attributed to hypothalamic dysfunction, serum gonadotropin levels have been consistently low or normal (22), and primary hypogonadism has also been described (10,29,46). Hypogonadotropic hypogonadism was found in two patients and primary hypogonadism in one.…”

Section: Discussionmentioning

confidence: 99%

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

Şimşek

Tekgül

et al. 2003

Acta Paediatrica

View full text Add to dashboard Cite

Aim: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. Methods: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. Results: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA Leu (UUR) A to G (nucleotide 3243) mutation.Conclusion: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.

show abstract

Section: Discussionmentioning

confidence: 99%

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

Şimşek

Tekgül

et al. 2003

Acta Paediatrica

View full text Add to dashboard Cite

show abstract

“…Primary hypogonadism (hypergonadotrophic or hypogonadotrophic) has been reported frequently in male patients (2,4,8,63,81,82). Ovarian function Kumar is normal with only abnormalities in menstruation reported from female patients (8,79).…”

Section: Kumarmentioning

confidence: 99%

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

Kumar

2010

Pediatric Diabetes

View full text Add to dashboard Cite

show abstract

“…In particular, among endocrinological problems, gonadal dysfunction has been described in affected patients and referred to as a suggestive clinical feature and is therefore not included in major nor minor diagnostic criteria. Cases of hypogonadotropic hypogonadism due to hypopituitarism and hypothalamic dysfunction have been classically reported since the first patient described by Wolfram in 1938 ( 14 , 15 ). Nonetheless descriptions of both primary and secondary hypogonadism are increasingly found in literature ( 14 – 18 ).…”

Section: Discussionmentioning

confidence: 99%

“…Gonadal dysfunction, mainly hypogonadotropic hypogonadism, has been reported and is to date considered a minor clinical feature in WFS1-SD patients ( 14 , 15 ). Hypergonadotropic hypogonadism has also been recently described ( 5 , 14 – 18 ).The prevalence of both primary and secondary hypogonadism in WFS1-SD varies widely from different reports, ranging from 7.1% to almost 30% ( 16 , 19 , 20 ).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2023

View full text Add to dashboard Cite

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.

show abstract

Primary Hypogonadism in Two Siblings With Wolfram Syndrome

Cited by 9 publications

References 0 publications

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

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

Contact Info

Product

Resources

About