Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
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Monica Grover
und
Parvin Yazdani
Abstract
The 45,X disorder of sexual differentiation (DSD) is a rare disorder. We report long-term follow-up of a 5-year-old African-American male whose evaluation for short stature revealed a karyotype of 45,X der(X)t(X;Y)(p22.3;p11.2)(SRY+). Presence of the SRY (sex-determining region Y) gene resulted in his male development. His chromosome abnormality also resulted in a deletion of the SHOX (short stature homeobox-containing) gene, which partly contributed to his short stature and skeletal features. He underwent normal spontaneous pubertal development, but his final height remained compromised due to advanced bone age, non-optimal response to recombinant human growth hormone (rhGH) treatment during the period of compliance and ultimately non-compliance with rhGH therapy. To our knowledge, this is the first case report describing long-term follow-up of a 45,X male DSD which highlights the similarities and differences from Turner syndrome females.
References
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©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Thyroid
- Thyroid disorders revisited
- Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
- Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
- Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
- Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
- Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
- Neonatal thyroid storm accompanied with severe anaemia
- Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
- Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
- Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
- Papillary thyroid cancer and autoimmune polyglandular syndrome
- Review article
- Should radioiodine be the first-line treatment for paediatric Graves’ disease?
- Image in pediatric endrocrinology
- Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
- Original articles
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Rickets and vitamin D deficiency in Alaska native children
- Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
- Parents’ experiences of having a baby with ambiguous genitalia
- Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
- Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
- Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
- Influence of the body weight on the onset and progression of puberty in boys
- Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
- Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
- Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
- Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
- Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
- Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
- Patient reports
- 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
- A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
- Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
- Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
- Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
- Donohue syndrome: a new case with a new complication
- Euprolactinemic galactorrhea secondary to domperidone treatment
- 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
- Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
- Short communication
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
Artikel in diesem Heft
- Frontmatter
- Highlight: Thyroid
- Thyroid disorders revisited
- Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
- Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
- Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
- Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
- Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
- Neonatal thyroid storm accompanied with severe anaemia
- Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
- Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
- Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
- Papillary thyroid cancer and autoimmune polyglandular syndrome
- Review article
- Should radioiodine be the first-line treatment for paediatric Graves’ disease?
- Image in pediatric endrocrinology
- Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
- Original articles
- Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- Rickets and vitamin D deficiency in Alaska native children
- Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
- Parents’ experiences of having a baby with ambiguous genitalia
- Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
- Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
- Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
- Influence of the body weight on the onset and progression of puberty in boys
- Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
- Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
- Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
- Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
- Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
- Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
- Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
- Patient reports
- 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
- A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
- Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
- Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
- Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
- Donohue syndrome: a new case with a new complication
- Euprolactinemic galactorrhea secondary to domperidone treatment
- 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
- Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
- Short communication
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
