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ea0029p1304 | Paediatric endocrinology | ICEECE2012

A novel splicing mutation of the POU1F1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

Mukai T. , Inoue H. , Ito Y. , Itakura M. , Fujieda K.

Background: Mutations in POU1F1/PIT1 gene, a pituitary-specific transcription factor, affect the development and function of the anterior pituitary and lead to combined pituitary hormone deficiency (CPHD).Objective: The clinical and genetic analysis of the twin patients presenting with mild form of CPHD and functional characterization of identified mutation.Cases: Five-year-old identical twin brothers were referred to determine the...

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ea0029p294 | Cardiovascular Endocrinology and Lipid Metabolism | ICEECE2012

In primary aldosteronism, plasma aldosterone concentration is an independent risk factor for albuminuria, and the higher baseline urinary albumin excretion predicts the less glomerular filtration rate after treatment

Iwakura Y. , Morimoto R. , Kudo M. , Ono Y. , Ito S. , Satoh F.

Background: The higher prevalence of urinary albumin was reported in patients with primary aldosteronism (PA) than those with essential hypertension (EH). It remains to be unclear, although glomerular hyperfiltration (HF) was hypothesized as one of the mechanisms of urinary albumin.Objectives: To clarify the risk factor of urinary albumin and the relationship with HF in PA.Methods: 123 patients with PA were treated acco...

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ea0029p1597 | Thyroid (non-cancer) | ICEECE2012

No Correlations between TSH receptor antibody levels assayed with Elecsys TRAb and the activity or severity of Graves’ ophthalmopathy

Noh J. , Iwaku K. , Suzuki M. , Sekiya K. , Matsumoto M. , Ohye H. , Kunii Y. , Yoshihara A. , Watanabe N. , Mukasa K. , Kosuga Y. , Ito K. Ito K.

Objective: This study was designed to determine whether TRAb levels are correlated with the activity and severity of Graves ophthalmopathy (GO).Subjects and Methods: The subjects were 179 untreated Graves disease patients. TRAb was assayed with Elecsys TRAb at the initial visit, and an ophthalmic assessment was performed within 3 months. The activity of the ophthalmopathy was assessed by clinical activity scores (CASs) and MRI T2 relaxation t...

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Endocrine Abstracts

A novel splicing mutation of the POU1F1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

In primary aldosteronism, plasma aldosterone concentration is an independent risk factor for albuminuria, and the higher baseline urinary albumin excretion predicts the less glomerular filtration rate after treatment

No Correlations between TSH receptor antibody levels assayed with Elecsys TRAb and the activity or severity of Graves’ ophthalmopathy

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