Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

Yumita, Shigeru; Furukawa, Yohtaro; Sohn, Hyo Euy; Unakami, Hiroshi; Miura, Ryo; Yoshinaga, Kaoru

doi:10.1620/tjem.148.135

Cited by 17 publications

(13 citation statements)

References 10 publications

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“…Renal dysplasia was observed only in the original patient. Aplasia of the right kidney was similar to those reported by Hasegawa et al (14) and Yumita et al (15). Thus, it is suggested that the clinical features of sensorineural deafness and renal abnormalities were not identical in the four previous reports and in our case study.…”

Section: Discussionsupporting

confidence: 87%

“…Nonspecific clinical manifestations due to chromosomal imbalancewerenoted: psychomotor retardation, short stature, anomaly of face and ventricular septal defect. Yumita et al (15) reported an association of familial idiopathic hypoparathyroidism with progressive sensorineural deafness. One female sibling among the investigated family members had impaired renal function, and aplasia or hypoplasia of the right kidney was diagnosed by CT scan, renoscintigraphy and renography.…”

Section: Discussionmentioning

confidence: 99%

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Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

et al. 2001

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Wedescribe a 27-year-old womanwith familial idiopathic hypoparathyroidism, bilateral sensorineural deafness and right renal aplasia. There was a family history of deafness in her father and two other family members with sensorineural deafness, one of whomhad hypoparathyroidism. To our knowledge, there have been four previous reports of idiopathic hypoparathyroidism associated with sensorineural deafness and renal dysplasia. The clinical features were not identical to any of the four previous reports. Although no chromosome abnormalities were present in the patient using standard trypsin G-banding analysis, we speculate that somecommon genetic mutation caused hypoparathyroidism, sensorineural deafness and renal dysplasia. (Internal Medicine 40: 110-113, 2001)

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

et al. 2001

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“…These patients, as tested by auditory brainstem response (ABR), conditioned oriented reflex tests or pure tone audiometry, were affected by either a symmetric or an asymmetric sensorineural hearing loss, ranging from moderate (40 dB) to profound (105 dB). Hearing loss was usually more severe at the higher end of the frequency spectrum [Bilous et al, 1992;Fujimoto et al, 1999;Hasegawa et al, 1997;Lichtner et al, 2000;Muroya et al, 2001;Yumita et al, 1986]. Hitherto, however, hearing loss in HDR patients has not been systematically evaluated and no attempts have been undertaken to identify the underlying cause of the hearing loss.…”

mentioning

confidence: 99%

Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome

Looij¹,

Meijers-Heijboer

Beetz

et al. 2006

Audiol Neurotol

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Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to audiometrical and histological data previously described in a mouse model of this disease. Pure tone audiometry, speech audiometry, speech in noise, auditory brainstem responses and transiently evoked otoacoustic emissions were measured in 2 patients affected by HDR syndrome. Both patients were affected by a moderate-to-severe sensorineural hearing loss. Speech reception thresholds were shifted and speech recognition in noise was disturbed. No otoacoustic emissions could be generated in either patient. Auditory brainstem response interpeak intervals were normal. The human and murine audiological phenotypes seem to correspond well. Hearing loss in HDR syndrome is moderate to severe, seems to be slightly worse at the higher end of the frequency spectrum and may be progressive with age. The absence of otoacoustic emissions and the loss of frequency selectivity suggest an important role for outer hair cells in causing the hearing loss.

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“…The occurrence of the condition in the three children and their father suggested an autosomal dominant from of the disorder [1][2][3][4][5].…”

Section: Discussionmentioning

confidence: 91%

“…IDIOPATHIC hypoparathyroidism is a rare disorder characterized by hypocalcemia associated with a low PTH level. Most cases of idiopathic hypoparathyroidism are sporadic, but some cases of familial isolated hypoparathyroidism (FIH) have been reported [1][2][3][4][5]. PTH-related protein (PTHrP), a major causative peptide of humoral hypercalcemia of malignancy, has recently been shown to be widely distributed in various tissues [6].…”

Section: Introductionmentioning

confidence: 99%

Familial Isolated Hypoparathyroidism: Case Report with Serum PTHrP Examination.

Koshiyama

Mori

et al. 1996

Endocr J

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Abstract.We report a family with isolated hypoparathyroidism. The proband was a 24-year-old woman, who presented with paresthesia of both hands. She had a mild degree of extrapyramidal signs, such as rigidity and decrease in arm swinging.Laboratory examinations revealed low PTH levels, mild hypocalcemia and hyperphosphatemia in the proband, her father, a younger brother and a younger sister, whereas her mother had normal serum calcium, phosphorus and PTH levels. These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother.Serum PTH-related protein (PTHrP) levels were examined, and found to be slightly high only in the father of the proband.

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Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

Cited by 17 publications

References 10 publications

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome

Familial Isolated Hypoparathyroidism: Case Report with Serum PTHrP Examination.

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