Abstract | BACKGROUND: Typically, newborns with congenital hypothyroidism are asymptomatic at birth, having been exposed to euthyroid mothers. However, hypopituitarism may be associated with central hypothyroidism, preserved fertility, and autosomal dominant inheritance, requiring increased attention to thyroid management during pregnancy. PATIENT FINDINGS: SUMMARY: In this report, we review a case of vertical transmission of a dominant negative POU1F1 mutation in which fetal abnormalities due to the hypothyroxinemic state during gestation may have been exacerbated by a decrease in the mother's levothyroxine dose based on a low TSH in early gestation. Both mother and fetus were unable to synthesize sufficient thyroid hormone, which may be responsible for the patient's clinical presentation. CONCLUSION: This case underscores several important points in the management of women with hypopituitarism. First, it is important that patients and clinicians are both aware of the differences in etiology, as well as appropriate screening and treatment, of primary versus central hypothyroidism. Second, it is necessary to monitor the thyroid hormone status closely during pregnancy to prevent fetal sequelae of maternal hypothyroidism. Third, genetic screening of patients with combined pituitary hormone deficiency is necessary, so that prenatal genetic counseling may be an option for expecting parents.
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Authors | Elyse Pine-Twaddell, Christopher J Romero, Sally Radovick |
Journal | Thyroid : official journal of the American Thyroid Association
(Thyroid)
Vol. 23
Issue 7
Pg. 892-7
(Jul 2013)
ISSN: 1557-9077 [Electronic] United States |
PMID | 23397938
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- POU1F1 protein, human
- Transcription Factor Pit-1
- Human Growth Hormone
- Thyrotropin
- Thyroxine
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Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Female
- Human Growth Hormone
(deficiency)
- Humans
- Hypopituitarism
(genetics)
- Hypothyroidism
(drug therapy, genetics, prevention & control)
- Infant, Newborn
- Male
- Pregnancy
- Pregnancy Complications
(drug therapy, physiopathology)
- Pregnancy Trimester, Second
- Thyrotropin
(blood)
- Thyroxine
(administration & dosage, therapeutic use)
- Transcription Factor Pit-1
(genetics)
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