TYPICAL AND ATYPICAL CASES OF PENDRED'S SYNDROME IN ONE FAMILY

ABSTRACT Pendred's syndrome is a condition which, in its complete form, is characterized by congenital deaf-mutism, goitre, and defective organic binding of iodide in the thyroid. However, there are less typical cases, e. g. without a goitre, with only limited hearing loss, or a normal perchlorate discharge test. A family was studied in which Pendred's syndrome was found in two generations. The complete form was present in two members; two other members were considered to show less typical forms of the same disorder. All were euthyroid. Three out of five sons were deaf-mute and goitrous. Perchlorate caused a discharge of radioiodine from the thyroid in two of them, and also in the father who had no goitre and a slight loss of hearing only detectable by audiometry. Peripheral deiodination of radioactive diiodotyrosine was normal in all patients, but had been abnormal in one son while he was hypothyroid.

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Pendred's Syndrome: A Study of Patients and Relatives

Annals of Otology Rhinology & Laryngology ◽

10.1177/000348949510401208 ◽

1995 ◽

Vol 104 (12) ◽

pp. 957-962 ◽

Cited By ~ 8

Author(s):

Musa N. Jamal ◽

Mohammed A. Arnaout ◽

Ribhi Jarrar

Keyword(s):

Hearing Loss ◽

Low Frequency ◽

Sensorineural Hearing ◽

The Other ◽

Test Results ◽

Profound Hearing Loss ◽

Low Frequencies ◽

Pendred’S Syndrome ◽

Perchlorate Discharge Test ◽

Discharge Test

Four families, 29 members, with Pendred's syndrome were studied to clarify hearing loss and hormonal status. The ages ranged fro 3 to 50 years. Complete Pendred's syndrome was found in 9 patients. They had bilateral profound hearing loss with residual hearing low frequencies. Goiter was diagnosed at the age of 1 to 14 years with a positive perchlorate discharge test. Twelve of the patient relatives showed partial Pendred's syndrome. Mild sensorineural hearing losses occurred in the low- and medium-range frequencies wi normal perchlorate discharge test results in 6 cases. The other 6 had a slight drop in the perchlorate discharge test results with norm hearing. Five subjects were normal and 3 had normal hormonal and normal perchlorate discharge test results, but were not teste audiologically. This paper shows that patients with Pendred's syndrome may have goiter at birth or develop it between 8 and 14 year that their deafness is bilateral and profound, and that their perchlorate discharge tests are positive. Relatives of Pendred's syndrorr patients showed mild low-frequency sensorineural hearing loss without goiter and normal perchlorate discharge test results in half tl cases, and a slight drop in the perchlorate discharge test results with normal hearing and without goiter in the other half. A correlatic between these findings and genetic studies needs further investigation.

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NON-TOXIC GOITRE

Acta Endocrinologica ◽

10.1530/acta.0.0720671 ◽

1973 ◽

Vol 72 (4) ◽

pp. 671-683 ◽

Cited By ~ 3

Author(s):

Hans Agerbæk

Keyword(s):

Thyroid Gland ◽

Pituitary Gland ◽

Elevated Serum ◽

Cellular Sensitivity ◽

Pendred’S Syndrome ◽

Inorganic Iodine ◽

Perchlorate Discharge Test ◽

Organification Defect ◽

Serum Tsh ◽

Discharge Test

ABSTRACT Among 50 consecutive patients operated on for non-toxic goitre, ten had an iodine dynamic pattern compatible with dyshormonogenesis, i. e. a high absolute iodine uptake (AIU) in the thyroid gland or a positive perchlorate discharge test. Extensive investigations of the ten patients were performed including chromatography of the serum, urine and thyroid gland digest. Six of the ten patients had dyshormonogenesis. Two patients had an iodine organification defect as part of Pendred's syndrome. In another a coupling defect was found. One patient differed in only two respects from the patients with simple iodine deficiency; the plasma inorganic iodine (PII) was found to be normal and the patient became hypothyroid soon after operation. A patient had recurrent goitre and a raised serum TSH in spite of an elevated serum thyroxine and normal TBG. The defect in this case could be a reduced cellular sensitivity to thyroxine which included the pituitary gland. Furthermore, a case of diffuse hyperplastic parenchymatous goitre was found. No case of a trapping defect or deiodinase defect was found. All the patients had elevated non-butanol extractable [125I] (NBEI).

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Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses

The Journal of Laryngology & Otology ◽

10.1017/s0022215100102592 ◽

1987 ◽

Vol 101 (7) ◽

pp. 721-722 ◽

Cited By ~ 9

Author(s):

V. K. Das

Keyword(s):

Vestibular Function ◽

X Rays ◽

Episodic Vertigo ◽

Normal Limits ◽

Pendred’S Syndrome ◽

Perchlorate Discharge Test ◽

Organification Defect ◽

Neural Deafness ◽

Caloric Tests ◽

Discharge Test

SummaryA case of early-onset bilateral sensori-neural deafness with episodic objective vertigo, tinnitus and vomiting, suggestive of Meniere's syndrome, was found to have a diffuse goitre. A Perchlorate discharge test was positive, indicating an organification defect diagnostic of Pendred's syndrome. The case was found to be euthyroid both clinically and on investigations. Tone decay was absent and recruitment was found, thus indicating a cochlear site of lesion. Bithermal caloric tests and clinical tests of vestibular function were within normal limits. X-rays, including petrous tomography, did not show any abnormalities.

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QUANTITATIVE STUDIES OF IODINE METABOLISM IN SPORADIC, NON-TOXIC GOITRE

Acta Endocrinologica ◽

10.1530/acta.0.0760067 ◽

1974 ◽

Vol 76 (1) ◽

pp. 67-73 ◽

Cited By ~ 2

Author(s):

H. Agerbæk ◽

S. E. Jensen

Keyword(s):

Iodine Deficiency ◽

Iodine Uptake ◽

Quantitative Studies ◽

Euthyroid State ◽

Iodine Metabolism ◽

Dynamic Patterns ◽

Perchlorate Discharge Test ◽

Normal Controls ◽

Discharge Test

ABSTRACT In 129 patients with non-toxic goitre and 27 normal controls, thyroid dynamic patterns were estimated in an attempt to elucidate pathogenesis. The clinically euthyroid state was confirmed by measurement of PBI, T3-sephadex uptake and BMR. Thyroid clearance (th. cl.), plasma iodide (PII), and absolute iodine uptake (AIU) were determined and a perchlorate discharge test performed. Twenty patients (16%) had a high AIU and were thus suspected of having dyshormonogenesis; nine were thoroughly investigated and in six dyshormonogenesis was found. Both normals and non-toxic goitre patients had a low PII, but in the goitrous patients values were lowest. The thyroid clearance of iodide was significantly higher in the goitre patients, suggesting iodine deficiency to be a major aetiologic factor for goitre formation. AIU was higher in the goitre patients than in normals, suggesting a larger iodine leakage from the thyroid in these patients.

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1 Protecting the Hearing of Performing Artists

Medical Problems of Performing Artists ◽

10.21091/mppa.2010.1001 ◽

2010 ◽

Vol 25 (1) ◽

pp. 1-2

Author(s):

Ralph A Manchester

Keyword(s):

Hearing Loss ◽

Performing Arts ◽

Time Loss ◽

Medical Problems ◽

Performing Artists ◽

Controversial Topic ◽

Loss Of Hearing

While there are many causes of hearing loss, many of which have nothing to do with exposure to loud noises, noise (or music)-induced hearing loss is theoretically preventable 100% of the time. Loss of hearing is typically a major problem if it happens to dancers and actors, but it is catastrophic for musicians. Thus, it is not surprising that this topic has been covered extensively in Medical Problems of Performing Artists, starting with “The Musician and Occupational Sound Hazards” by Hart et al. in volume 2, over 20 years ago. Without duplicating the content of those articles, this editorial will try to determine why this remains a somewhat controversial topic in the performing arts and what can be done to move us forward.

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Do not Overlook Pendred's Syndrome in Children with Sensorineural Hearing Loss

Ear Nose & Throat Journal ◽

10.1177/014556130108001018 ◽

2001 ◽

Vol 80 (10) ◽

pp. 760-761

Author(s):

Hüseyin Çaksen ◽

Selim Kurtoglu ◽

Saban Yüksel ◽

Ahmet Çiftçi ◽

Mustafa Kendirci

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Pendred’S Syndrome

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Hearing loss after neurosurgery. The influence of low cerebrospinal fluid pressure

The Journal of Laryngology & Otology ◽

10.1017/s0022215100127719 ◽

1994 ◽

Vol 108 (8) ◽

pp. 637-641 ◽

Cited By ~ 37

Author(s):

Alice Walsted ◽

Ole Amtoft Nielsen ◽

Peter Borum

Keyword(s):

Cerebrospinal Fluid ◽

Hearing Loss ◽

Endolymphatic Hydrops ◽

Fluid Pressure ◽

Significant Loss ◽

Control Group ◽

Post Operative Period ◽

Group A ◽

A Prospective Study ◽

Loss Of Hearing

AbstractA prospective study was performed to investigate the effect of neurosurgery on hearing. Thirty-two patients underwent neurosurgery while 32 patients who had surgical procedures not involving puncture or drainage of the subdural space, served as a control group. In the neurosurgical group, a significant loss of hearing was observed in the immediate post-operative period, with recovery over one week. No average threshold shift was observed in the control group. It is suggested that following neurosurgery the mechanism of hearing loss results directly from a decrease in pressure and/or volume of the cerebrospinal fluid, which is reflected within the perilymphatic fluid, comparable to a transitory endolymphatic hydrops.

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Ethics of Placebo Control in Trials for Idiopathic Sudden Sensorineural Hearing Loss

Otolaryngology ◽

10.1177/0194599816644440 ◽

2016 ◽

Vol 155 (1) ◽

pp. 8-12 ◽

Cited By ~ 2

Author(s):

Miguel Maldonado Fernández ◽

Susan Kornetsky ◽

Laura Rubio Rodriguez

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Sudden Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Placebo Control ◽

Cochrane Systematic Review ◽

Sudden Loss ◽

Randomized Controlled ◽

Systemic Corticosteroids ◽

Loss Of Hearing

Idiopathic sudden sensorineural hearing loss (ISSHL) involves sudden loss of hearing from cochlear or retrocochlear origin of unknown cause. Systemic corticosteroids may be considered in the management of ISSNHL. However, an updated Cochrane systematic review concludes that “the value of steroids in the treatment of idiopathic sudden sensorineural hearing loss remains unclear since the evidence obtained from randomized controlled trials is contradictory in outcome.” Therefore, a new clinical trial that addresses this question is mandatory. A first step in its design is to determine if placebo control would be ethically acceptable. We conclude that there is equipoise (uncertainty) about the use of corticosteroids for ISSHL. A new trial is justified—but with the inclusion of interim analyses to detect early imbalances on efficacy or safety and with the ability to stop the trial if needed.

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