Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias
-
Ruifang Wang
,
Wei Wang
Abstract
Objectives: To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease.
Methods: A total of 52 boys with hypospadias were enrolled. Mutational analyses of the SRD5A2, AR and SF-1 genes were performed by direct sequencing.
Results: SRD5A2 gene mutations were found in 13.5% (7/52 cases), including five compound heterozygotic and two homozygotic mutations. One novel heterozygotic SF-1 gene mutation was identified in a patient with perineal hypospadias and cryptorchidism, the patient’s mother also had the same mutation. No mutation was found in the AR gene. The clinical manifestations of patients with mutations in SRD5A2 or SF-1 varied.
Conclusions: In Chinese patients, SRD5A2 gene mutations were, relatively, frequently associated with hypospadias. The SF-1 gene may be another candidate gene for hypospadias. In contrast, AR gene mutations are not commonly associated with this condition.
References
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Articles in the same Issue
- Masthead
- Masthead
- Review article
- Tamoxifen therapy for the management of pubertal gynecomastia: a systematic review
- Images in pediatric endocrinology
- Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency
- A rare case of granuloma annulare in a 6-year-old child with type 1 diabetes
- Original articles
- The arginine stimulation test: timing of peak is not a helpful parameter in the diagnosis of growth hormone deficiency
- The relationship between adiposity and stature in prepubertal children with celiac disease
- Influence of micronutrient status and socioeconomic gradient on growth indices of 2–18-year-old Indian girls
- Phosphotyrosine phosphatases in GH-stimulated skin fibroblasts from children with idiopathic short stature
- The relation between salivary cortisol and the metabolic syndrome score in girls
- Association of vitamin D concentrations with adiposity indices among preadolescent children in Korea
- Association of serum resistin levels with metabolic syndrome and early atherosclerosis in obese Chinese children
- Characteristics of infants at risk of hypoglycaemia secondary to being ‘infant of a diabetic mother’
- Parental dyadic coping in families of children and adolescents with type 1 diabetes
- Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome
- Effect of insulin therapy on IGF-1 level in children with new-onset type 1 diabetes mellitus: a comparison between DKA and non-DKA
- Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias
- Sexual development in prepubertal obese boys: a 4-year longitudinal study
- Genetic diagnosis of one family with incomplete clinical data
- Patient reports
- Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor
- Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture
- Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?
- Gonadal function of beta-thalassemics following stem cell transplantation conditioned with myeloablative and reduced intensity regimens
- Significant testicular enlargement in a 6.5-year-old boy with monorchism and testicular microlithiasis
- Report of the first case of precocious puberty in Rett syndrome
- Type II vitamin D-dependent rickets with diabetic ketoacidosis
- Pituitary gigantism presenting with depressive mood disorder and diabetic ketoacidosis in an Asian adolescent
- A rare association between Rathke’s cyst and hypophysitis in a patient with delayed sex development and growth failure
- Diabetes mellitus with Laron syndrome: case report
- Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood
- Rare cases of autoimmune hypothyroidism in young children
- Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF
- Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy
- Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease
- Virilization in two pre-pubertal children exposed to topical androgen
- A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands
- Short communications
- Plasma ceramides are elevated in female children and adolescents with type 2 diabetes
- Assessment of contractility and myocardial function in small and appropriate for gestational age premature neonates using the stress-velocity relationship and tissue Doppler imaging immediately after birth
- Letter to the Editors
- Homeostasis model assessment of insulin resistance may not be reliable to evaluate insulin sensitivity in young obese children
- Type 1 diabetes in women with endometriosis: what is the risk of occurrence?
- How should we manage vitamin D-deficient adolescents?
- Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a
