✦ LIBER ✦

Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome

✍ Scribed by Cammareri, Valeria; Vignati, Gabriele; Nocera, Gianfranco; Beck-Peccoz, Paolo; Persani, Luca

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 17 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990827)85:5<491::aid-ajmg11>3.0.co;2-z

No coin nor oath required. For personal study only.

✦ Synopsis

A girl with Williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 U/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies. Thyroid ultrasonography and scintigraphy showed hemiagenesis of the left lobe and no evidence of ectopic tissue. TSH response to thyrotropin-releasing hormone (TRH) injection (200 g/mq, i.v.) was exaggerated and prolonged, suggesting subclinical hypothyroidism. The biological activity of circulating TSH was slightly below the normal range [TSH bioactivity (B) to immunoreactivity (I) ratio (TSH B/I) = 0.4, normal: 0.6-2.2]. These abnormalities are similar to those seen in patients with hypothalamic hypothyroidism. Thyroid function is not a recognized manifestation of WS and is not routinely investigated. However, abnormalities of the hypothalamic-pituitarythyroid (HPT) axis and thyroid dysgenesis have been found in other WS cases. Genes mapping at 7q11.23, contiguous to the chromosomal region deleted in most WS patients, may be involved in the development of the thyroid gland, contributing to the complex phenotype of WS. Am.

📜 SIMILAR VOLUMES

Low MSAFP levels and Williams syndrome

✍ Chodirker, Bernard N.; Greenberg, Cheryl R.; Giddins, Niels G.; Dawson, Angelika 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha fetoprotein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confir

Elevated ambulatory blood pressure in 20

Elevated ambulatory blood pressure in 20 subjects with Williams syndrome

✍ Broder, Karen; Reinhardt, Eric; Ahern, JoAnne; Lifton, Richard; Tamborlane, Will 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 1 views

Previous studies report conflicting frequencies of hypertension in cohorts of patients with Williams syndrome (WS). We studied blood pressure (BP) in WS using 24-hour ambulatory BP monitoring. This technique reliably measures day-and nighttime BP in a subject's natural environment and provides bette

Infantile spasms in two children with Wi

Infantile spasms in two children with Williams syndrome

✍ Tsao, Chang Y.; Westman, Judith A. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhyt

Neurological involvement in a child with

Neurological involvement in a child with the wrinkly skin syndrome

✍ Azuri, Joseph; Mizrachi, Avraham; Weintraub, Shlomo; Lerman-Sagie, Tally 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with dele

Optic nerve asymmetry in a child with Ru

Optic nerve asymmetry in a child with Russell-Silver syndrome

✍ Siegel, Lance M.; Granet, David B.; Jones, Kenneth Lee 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

The Russell-Silver syndrome (RSS) is a form of dwarfism comprising intrauterine and postnatal growth retardation with craniofacial disproportion, triangular face,

CNS malformation in a child with Kabuki

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

✍ Chu, Da-Chang; Finley, Sara C.; Young, Daniel W.; Proud, Virginia K. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 2 views

Kabuki (Niikawa-Kuroki) syndrome (KS) comprises characteristic facial changes, developmental delay, skeletal anomalies, mental retardation, and abnormal dermatoglyphics. We report on a 5-year-old Caucasian boy with KS who required surgery for a giant left temporoparietal subarachnoid cyst at age 5 1