chromosome due to the complete absence of one X-chromosome or from structural anomalies of one X-chromosome. The phenotype is variable and depends on the chromosomal pattern. The condition is characterized, in its classical form, by short stature and gonadal failure, the latter resulting in delayed or absent pubertal development. Other common elements include lymphedema, renal and cardiac anomalies, webbed neck, cubitus valgus and are mainly present in patients with X-monosomy. Most TS patients have a mild phenotype; so the diagnosis is often delayed because of lack of suspicion. This is frequent for those patients who have rare karyotypic constitutions. Case report: We present the case of a girl who was referred to our Unit of Pediatric Endocrinology for obesity. He was 16 years old and had not presented menarche. On physical examination she had: height 152.0 cm (- 1.7 SDS), mid-parental height 158.2 cm (- 0.9 SDS), weight 83.400 kg (+2.5 SDS), BMI 36, sitting height/height = 0.545, Tanner stage B2, P5, thyroid palpable, ungueal dysplasia, numerous cutaneous nevi, mild facial dysmorphic features. Laboratory investigation showed elevated levels of FSH (79 mIU/ml) and LH (13 mIU/ml) and pelvic ultrasound evidenced small ovaries (1 cc) without follicles, so karyotype analysis was performed and confirmed the clinical suspicion of TS but evidenced a very rare chromosomal variant : 85% of the total cells with 45XO, 11% with 46 X, I (Xq10), 4% with 47, X, i(Xq10), i(Xq10). Conclusions: Our case report confirms the theory that many, if not most, mosaic individuals with TS remain undiagnosed during infancy because they have a relatively unremarkable phenotype and that the severity of the phenotype classically associated with TS is exaggerated.

A very rare karyotype in TS syndrome: 45X0, 46X, i(Xq10),X, i(Xq10), i (Xq10)

MESSINA, Maria Francesca;SALZANO, Giuseppina;DE LUCA, Filippo
2012

Abstract

chromosome due to the complete absence of one X-chromosome or from structural anomalies of one X-chromosome. The phenotype is variable and depends on the chromosomal pattern. The condition is characterized, in its classical form, by short stature and gonadal failure, the latter resulting in delayed or absent pubertal development. Other common elements include lymphedema, renal and cardiac anomalies, webbed neck, cubitus valgus and are mainly present in patients with X-monosomy. Most TS patients have a mild phenotype; so the diagnosis is often delayed because of lack of suspicion. This is frequent for those patients who have rare karyotypic constitutions. Case report: We present the case of a girl who was referred to our Unit of Pediatric Endocrinology for obesity. He was 16 years old and had not presented menarche. On physical examination she had: height 152.0 cm (- 1.7 SDS), mid-parental height 158.2 cm (- 0.9 SDS), weight 83.400 kg (+2.5 SDS), BMI 36, sitting height/height = 0.545, Tanner stage B2, P5, thyroid palpable, ungueal dysplasia, numerous cutaneous nevi, mild facial dysmorphic features. Laboratory investigation showed elevated levels of FSH (79 mIU/ml) and LH (13 mIU/ml) and pelvic ultrasound evidenced small ovaries (1 cc) without follicles, so karyotype analysis was performed and confirmed the clinical suspicion of TS but evidenced a very rare chromosomal variant : 85% of the total cells with 45XO, 11% with 46 X, I (Xq10), 4% with 47, X, i(Xq10), i(Xq10). Conclusions: Our case report confirms the theory that many, if not most, mosaic individuals with TS remain undiagnosed during infancy because they have a relatively unremarkable phenotype and that the severity of the phenotype classically associated with TS is exaggerated.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/2458025
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 1
social impact