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Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency

  • Medical Genetics
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Abstract

The case of a girl carrying a balanced X/autosome translocation: 46,X,t(X;18)(q22.3;q23),inv(9)(p11q13) and pituitary hormone deficiency (growth hormone and gonadotropin) is described. The patient had a doll-like facies, with frontal bossing and poor development of the nasal bridge, increased adipose tissue especially of the trunk, short stature and absence of pubertal development without Ullrich-Turner stigmata apart from urinary tract malformation. The lack of spontaneous puberty seems related both with gonadotropin deficiency, as suggested by hormonal data and MRI of the pituitary region, and with gonadal dysgenesis, due to the X/autosome translocation, involving the critical region of the X chromosome essential for normal ovarian function. Growth velocity was unsatisfactory during growth hormone treatment; a higher dose of growth hormone similar to that used in Ullrich-Turner patients, would probably have improved her growth rate.

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Abbreviations

FSH:

follicle-stimulatory hormone

GH:

growth hormone

GnRH:

gonadotropin releasing hormone

LH:

luteinizing hormone

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Authors and Affiliations

  1. Clinica Pediatrica, Università di Pavia, IRCCS Policlinico S. Matteo, P. le Golgi, 2, I-27100, Pavia, Italia

    D. Larizza & M. Maghnie

  2. Biologia Generale e Genetica Medica, Università di Pavia, I-27100, Pavia, Italia

    P. Maraschio

  3. Clinica Ostetrica e Ginecologica, Università di Pavia, IRCCS Policlinico S. Matteo, I-27100, Pavia, Italia

    P. Sampaolo

Authors
  1. D. Larizza
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  2. P. Maraschio
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  3. M. Maghnie
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  4. P. Sampaolo
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Larizza, D., Maraschio, P., Maghnie, M. et al. Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency. Eur J Pediatr 152, 424–427 (1993). https://doi.org/10.1007/BF01955903

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  • DOI: https://doi.org/10.1007/BF01955903

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