ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome. [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(1): 32-35 | DOI: 10.4274/jcrpe.v3i1.07

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Mustafa Ali Akın1, Tamer Güneş1, Leyla Akın2, Dilek Çoban1, Sena Kara Oncu3, Aslıhan Kiraz4, Selim Kurtoğlu5
1Erciyes University, Faculty Of Medicine, Department Of Pediatrics, Division Of Neonatology, Kayseri, Turkey
2Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
3Erciyes University, Faculty Of Medicine, Department Of Pediatrics, Kayseri, Turkey
4Erciyes University, Faculty Of Medicine, Department Of Medical Genetics, Kayseri, Turkey
5Erciyes University, Faculty Of Medicine, Department Of Pediatrics, Division Of Pediatric Endocrinology And Neonatology, Kayseri, Turkey

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery.
They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 µg/kg/day) around the end of the 3rd week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report.

Keywords: Rubinstein-Taybi syndrome,monozygotic twins,congenital hyperthyroidism,thyroid hypoplasia

Mustafa Ali Akın, Tamer Güneş, Leyla Akın, Dilek Çoban, Sena Kara Oncu, Aslıhan Kiraz, Selim Kurtoğlu. Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.. J Clin Res Pediatr Endocrinol. 2011; 3(1): 32-35
Manuscript Language: English
LookUs & Online Makale