A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
-
Arianna Mareri
,
MariaLaura Iezzi
Abstract
Maleness associated with a 45,X karyotype is a rare condition in childhood. It is usually diagnosed in adult age because of infertility. We report a unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referred because of short stature, thin habitus and puberty delay. Hormone analysis showed low serum levels of basal testosterone, insulin-like growth factor (IGF-I) and gonadotrophins. Diagnosis of GH deficiency and puberty delay were made. He was treated with human chorionic gonadotropin (hCG) and GH therapy, respectively, for 6 and 24 months.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
Articles in the same Issue
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
