Diagnosis and Management of Central Congenital Hypothyroidism

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Diagnosis and Management of Central Congenital Hypothyroidism. / Lauffer, Peter ; Zwaveling-Soonawala, Nitash ; Naafs, Jolanda C. et al.

In: Frontiers in endocrinology, Vol. 12, 686317, 09.09.2021.

Research output: Contribution to journal › Review article › Academic › peer-review

BibTeX

@article{577b5263adde4d9680739b8184bba2cb,

title = "Diagnosis and Management of Central Congenital Hypothyroidism",

abstract = "Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pituitary hormone deficiencies (CPHD). In recent years several novel genetic causes of isolated central CH have been discovered (IGSF1, TBL1X, IRS4), and up to 90% of isolated central CH cases can be genetically explained. For CPHD the etiology usually remains unknown, although pituitary stalk interruption syndrome does seem to be the most common anatomic pituitary malformation associated with CPHD. Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice. This review provides an update on the etiology and prognosis of central CH, and a practical approach to diagnosis and management of this intriguing condition.",

keywords = "central congenital hypothyroidism, combined pituitary hormone deficiencies, diagnosis, etiology, isolated central congenital hypothyroidism, management, pituitary stalk interruption syndrome",

author = "Peter Lauffer and Nitash Zwaveling-Soonawala and Naafs, {Jolanda C.} and Anita Boelen and {van Trotsenburg}, {A. S. Paul}",

note = "Publisher Copyright: {\textcopyright} Copyright {\textcopyright} 2021 Lauffer, Zwaveling-Soonawala, Naafs, Boelen and van Trotsenburg.",

year = "2021",

month = sep,

day = "9",

doi = "10.3389/fendo.2021.686317",

language = "English",

volume = "12",

journal = "Frontiers in endocrinology",

issn = "1664-2392",

publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Diagnosis and Management of Central Congenital Hypothyroidism

AU - Lauffer, Peter

AU - Zwaveling-Soonawala, Nitash

AU - Naafs, Jolanda C.

AU - Boelen, Anita

AU - van Trotsenburg, A. S. Paul

PY - 2021/9/9

Y1 - 2021/9/9

N2 - Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pituitary hormone deficiencies (CPHD). In recent years several novel genetic causes of isolated central CH have been discovered (IGSF1, TBL1X, IRS4), and up to 90% of isolated central CH cases can be genetically explained. For CPHD the etiology usually remains unknown, although pituitary stalk interruption syndrome does seem to be the most common anatomic pituitary malformation associated with CPHD. Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice. This review provides an update on the etiology and prognosis of central CH, and a practical approach to diagnosis and management of this intriguing condition.

AB - Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pituitary hormone deficiencies (CPHD). In recent years several novel genetic causes of isolated central CH have been discovered (IGSF1, TBL1X, IRS4), and up to 90% of isolated central CH cases can be genetically explained. For CPHD the etiology usually remains unknown, although pituitary stalk interruption syndrome does seem to be the most common anatomic pituitary malformation associated with CPHD. Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice. This review provides an update on the etiology and prognosis of central CH, and a practical approach to diagnosis and management of this intriguing condition.

KW - central congenital hypothyroidism

KW - combined pituitary hormone deficiencies

KW - diagnosis

KW - etiology

KW - isolated central congenital hypothyroidism

KW - management

KW - pituitary stalk interruption syndrome

UR - http://www.scopus.com/inward/record.url?scp=85115620764&partnerID=8YFLogxK

U2 - 10.3389/fendo.2021.686317

DO - 10.3389/fendo.2021.686317

M3 - Review article

C2 - 34566885

VL - 12

JO - Frontiers in endocrinology

JF - Frontiers in endocrinology

SN - 1664-2392

M1 - 686317

ER -

ID: 19886626

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