Development in a 46 XX boy with positive SRY gene

A. Rego, E. Margarit, Xavier P. Estivill, M. Regal, R. V. García-Mayor

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

We present the case of an 11 year-old boy, who asked for medical attention due to obesity and assumed underdeveloped external genitalia. He did not have genital anomalies, penile length was 5.3 cm, testicular volume 2 ml and pubic hair Tanner stage 1. His bone age was normal for chronological age. Endocrinological study showed normal results for his age. Karyotype revealed a 46 XX pattern. MRI of external genitalia showed bilateral scrotal testes which were normal in diameter for his age. The check of his historical growth chart and follow-up revealed normal growth with pubertal development. However, studies showed progressive increase of FSH levels, indicative of failure of germinal epithelium. The presence of Y sequences, including SRY gene, was demonstrated by PCR. Our observation is in agreement with the view that 46 XX male subjects diagnosed at peripubertal age with the SRY gene in the genome have a good prognosis regarding growth and development, but the principal problem of these patients is infertility.

Original languageEnglish
Pages (from-to)623-626
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume9
Issue number6
Publication statusPublished - 1996
Externally publishedYes

Fingerprint

Genitalia
Growth Charts
Karyotype
Growth and Development
Hair
Infertility
Genes
Testis
Epithelium
Obesity
Observation
Genome
Bone and Bones
Polymerase Chain Reaction
Growth

Keywords

  • 46 XX maleness
  • Development
  • Karyotype
  • SRY gene
  • Y chromosome

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

Rego, A., Margarit, E., Estivill, X. P., Regal, M., & García-Mayor, R. V. (1996). Development in a 46 XX boy with positive SRY gene. Journal of Pediatric Endocrinology and Metabolism, 9(6), 623-626.

Development in a 46 XX boy with positive SRY gene. / Rego, A.; Margarit, E.; Estivill, Xavier P.; Regal, M.; García-Mayor, R. V.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 9, No. 6, 1996, p. 623-626.

Research output: Contribution to journalArticle

Rego, A, Margarit, E, Estivill, XP, Regal, M & García-Mayor, RV 1996, 'Development in a 46 XX boy with positive SRY gene', Journal of Pediatric Endocrinology and Metabolism, vol. 9, no. 6, pp. 623-626.
Rego, A. ; Margarit, E. ; Estivill, Xavier P. ; Regal, M. ; García-Mayor, R. V. / Development in a 46 XX boy with positive SRY gene. In: Journal of Pediatric Endocrinology and Metabolism. 1996 ; Vol. 9, No. 6. pp. 623-626.
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