ICEECE2012 Poster Presentations Pituitary Clinical (183 abstracts)
Two cases of sever congenital central hypothyroidism with TSH and prolactin deficiency-possible new syndrome
N Matsuura 1 , A Koike 2 , S Ohtsu 3 , N Takubo 3 , K Kikuda 3 , K Shibayama 3 , S Narumi 4 & T Hasegawa 4
1Seitoku University, Matsudo, Japan; 2Koike Pediatric Clinic, Sapporo, Japan; 3Kitasato University School of Medicine, Sagamihara, Japan; 4Keio University School of Medicine, Tokyo, Japan.
Instruction: Most of cases reported before who were detected by FT4 or T4 newborn screening are, TSH and GH deficiency or CNS anomalies, and their hypothyroidism is mild. We report two cases of sever congenital hypothyroidism with TSH and Prolactin (PRL) deficiency, detected by TSH and FT4 screening.
Case report: Case 1. K.W. boy, was born at 38 gestations, weighted 3.17 kg. Thyroid function at 5 days of age was TSH 5.6 mU/l, FT4 0.07 ng/dl. Epiphysis of distal femur was not detected. L-T4 treatment was started followed by TRH loading test. Thyroid studies were performed at 6 9/12 years after discontinued L-T4. TSH 4.6 mU/l, PRL 1.0 ng/ml, FT4 0.13 ng/dl at baseline and low delayed response was observed after TRH loading. IQ was 94. Growth and development, MRI is normal.
Case 2, H.F. boy, was born at 38 gestations, weighted 3.37 kg. Thyroid function at 5 days of age was TSH 5.9 mU/l, FT4 0.14 ng/dl. Epiphysis of distal femur was 1×3 mm. L-T4 treatment was started followed by TRH loading test. Thyroid studies were performed at 5 10/12 years after discontinued L-T4. TSH 2.8 mU/l, PRL 1.1 ng/ml, FT4 0.1 ng/dl at baseline and low delayed response was observed after TRH loading. IQ was 100. Growth and development, MRI is normal.
Methods and result: TRH, TRH-receptor, GATA2 and TSH-β genes were analyzed and not found any mutations. Metoclopramide, 10–20 mg, was given intravenously and serum PRL was determined. Although prompt response was observed in controls, no response was observed in two patients.
Conclusion: This is the first report of severe congenital central hypothyroidism with TSH and PRL deficiency. Etiologies of patients have to be resolved.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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