ArticleActa endocrinologica (Bucharest, Romania : 2005)
Growth Hormone Dynamics among Children with Mixed Gonadal Dysgenesis (45,X/46,XY).
Article in Acta endocrinologica (Bucharest, Romania : 2005). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- PEG-rhGH successfully improved the height of a patient with rare 45,X[40]/46,XY[31] disorder of sex development: the first reported case.Translational pediatrics · 2026Article
- A rare case of mixed gonadal dysgenesis in adulthood: diagnostic delay and unique outcomes.Journal of surgical case reports · 2023Article
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.Acta endocrinologica (Bucharest, Romania : 2005)Article
- A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Abstract
contextLearn the growth hormone dynamics and discuss the issues of growth hormone therapy in subjects with 45,X/46XY.
objectiveTo study the growth hormone dynamics in children with 45,X/46,XY karyotyping and mixed gonadal dysgenesis (MGD).
designDescriptive clinical study.
participantsFive subjects with karyotype 45,X / 46,XY with or without genital ambiguity and somatic features of SHOX haploinsufficiency.
interventionsGrowth hormone dynamic study and gonadectomy. MAIN OUTCOME: IGF-1, peak GH levels, Turner's stigmata and histology of gonadal tissue.
resultsFive cases of MGD with both male and female phenotype were studies. IGF-1 levels and GH levels showed both features of growth hormone deficiency and growth hormone insensitivity. One study subject has gonadal germ cell tumour (dysgerminoma). We discuss here the issues regarding the GH therapy in MGD subjects.
conclusionGrowth deceleration in MGD subjects is partly due to defective growth hormone secretion and partly due to growth hormone insensitivity. MGD subjects are at high risk for occurrence of gonadal tumours. Gonadectomy or biopsy of underlying dysgenetic gonads is essential prior GH therapy. Close surveillance for second neoplasm is to be considered in subjects with history of gonadal tumors prior starting GH for short stature.
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