Euthyroid Hyperthyroxinemia and Inappropriate Secretion of Thyrotropin

1987 ◽  
Vol 147 (7) ◽  
pp. 1311 ◽  
Author(s):  
Jeffrey A. Jackson
Keyword(s):  
Inappropriate Secretion ◽  
Euthyroid Hyperthyroxinemia

Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Saygin Abali ◽  
Zehra Yavas Abali ◽  
Kanay Yararbas ◽  
Serap Semiz
Keyword(s):  
Molecular Diagnosis ◽  
De Novo ◽  
Hot Spot ◽  
High Serum ◽  
Thyroid Function Tests ◽  
Simple Method ◽  
Normal Thyroid Function ◽  
Frequent Variant ◽  
Euthyroid Hyperthyroxinemia ◽  
Dominant Condition

Abstract Objectives Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene. Case presentation We report, a three-year-old boy with FDH due to p.R242P (or p.R218P without signal peptide) mutation in the ALB gene with a phenotype characterized by extremely high serum total and free thyroxine concentrations. His parents had normal thyroid function tests (TFT), so the mutation detected in this patient is assumed “de novo”. Although the most frequent variant was p.R242H in Caucasians and p.R242P in Japanese, our patient had p.R242P variant. Conclusions Early identification of FDH is fundamental to prevent unnecessary repeats of TFT with different methods. We encourage the ALB gene hot spot sequencing initially and indicate that this molecular diagnosis is a rapid and simple method to diagnose FDH in individuals with euthyroid hyperthyroxinemia.

scholarly journals Increased oxytocin release precedes hyponatremia after pituitary surgery

Pituitary ◽  
2021 ◽  
Author(s):  
Paul Eugène Constanthin ◽  
Nathalie Isidor ◽  
Sophie de Seigneux ◽  
Shahan Momjian
Keyword(s):  
Transsphenoidal Surgery ◽  
Pituitary Surgery ◽  
Sodium Balance ◽  
Posterior Pituitary ◽  
Axon Terminals ◽  
Early Marker ◽  
Inappropriate Secretion ◽  
Oxytocin Release ◽  
Transsphenoidal Pituitary Surgery ◽  
First Time

Abstract Purpose The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a well-known complication of transsphenoidal pituitary surgery, related to inappropriate secretion of arginine vasopressin (AVP). Its diagnosis is based on hyponatremia, with a peak of occurrence around day 7 after surgery and, to date, no early marker has been reported. In particular, copeptin levels are not predictive of hyponatremia in this case. Oxytocin (OXT) is secreted into the peripheral blood by axon terminals adjacent to those of AVP neurons in the posterior pituitary. Besides its role in childbirth and lactation, recent evidences suggested a role for OXT in sodium balance. The contribution of this hormone in the dysnatremias observed after pituitary surgery has however never been investigated. Methods We analyzed the urinary output of OXT in patients subjected to transsphenoidal pituitary surgery. Results While OXT excretion remained stable in patients who presented a normonatremic postoperative course, patients who were later diagnosed with SIADH-related hyponatremia presented with a significantly increased urinary secretion of OXT 4 days after surgery. Conclusion Taken together, these results show for the first time that urinary OXT output remains normally stable after transsphenoidal pituitary surgery. OXT excretion however becomes abnormally high on or around 4 days after surgery in patients later developing hyponatremia, suggesting that this abnormal dynamics of OXT secretion might serve as an early marker for transsphenoidal surgery-related hyponatremia attributed to SIADH.

Sign in / Sign up

Export Citation Format

Share Document