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Short stature in a phenotypic male caused by mixed gonadal dysgenesis

Nature Clinical Practice Endocrinology & Metabolism volume 4, pages 524–528 (2008)Cite this article

Abstract

Background An 8.5-year-old boy was referred to a pediatric endocrinology clinic for evaluation of short stature. At birth, a chordee without hypospadius, 90-degree penile torsion and an undescended testis on the right had been observed. The boy had undergone surgical repair at 1 year of age and at that time an undescended 'nonfunctional' streak gonad and a horseshoe kidney had been noted. Subsequent karyotype analysis had revealed a 45,X0/46,XY karyotype with mosaicism. Since 4–5 years of age, the patient's height has been below the 3rd percentile, whereas his weight has been maintained at approximately the 3rd percentile.

Investigations Performance of thyroid function tests, measurement of levels of insulin-like growth factor I and insulin-like growth factor binding protein 3, estimation of bone age, calculation of height and weight percentiles and SD scores based on 2000 normative data from the National Center for Health Statistics, USA.

Diagnosis Mixed gonadal dysgenesis with a 45,X0/46,XY karyotype.

Management The patient's growth was found to be following the 50th percentile growth curve on the Turner syndrome growth chart, which was significantly below his mid-parental target height. He was started on growth hormone at a dose of 0.35 mg/kg/week. The patient remains under close follow-up to monitor his linear growth velocity and his pubertal development.

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Figure 1: The patient's growth charts from birth to current age, obtained from his pediatrician.
Figure 2: The patient's growth data plotted on a Turner syndrome growth chart showing growth along the 50th percentile.

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Authors and Affiliations

  1. CM Jacobsen is a Fellow in Endocrinology and Genetics at Children's Hospital Boston and Harvard Medical School, and LE Cohen is the Director of the Neuroendocrinology Program at Children's Hospital Boston and an Associate Professor of Pediatrics at Harvard Medical School, Boston, MA, USA.,

    Christina M Jacobsen & Laurie E Cohen

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  1. Christina M Jacobsen
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  2. Laurie E Cohen
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Correspondence to Laurie E Cohen.

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Competing interests

Laurie Cohen received a speaking fee from Novo Nordisk in July 2007. CM Jacobsen declared no competing interests.

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Jacobsen, C., Cohen, L. Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Nat Rev Endocrinol 4, 524–528 (2008). https://doi.org/10.1038/ncpendmet0902

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