The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
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Nasir A.M. Al-Jurayyan
Abstract
Background: The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades.
Objective: To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia.
Materials and methods: This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989–2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients.
Results: During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes.
Conclusion: A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.
Acknowledgments
The authors would like to thank Ms. Loida M. Sese for her secretarial assistance and extend their thanks and appreciation to the College of Medicine Research Centre, Deanship of Scientific Research, King Saud University, Riyadh, for funding this work.
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©2015 by De Gruyter
Articles in the same Issue
- Frontmatter
- Highlight: Growth hormone
- Growth hormone and growth hormone deficiency – still a lot to learn
- Dynamic changes in the hypothalamic- pituitary-adrenal axis during growth hormone therapy in children with growth hormone deficiency: a multicenter retrospective study
- Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children
- Carotid intima-media thickness in children treated with growth hormone
- The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
- Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa
- Growth hormone deficiency in a patient with mitochondrial disease
- Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
- Review articles
- Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
- Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
- Original articles
- Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes
- Insulin dynamics and biochemical markers for predicting impaired glucose tolerance in obese Thai youth
- Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood
- Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study
- Role of circulating adipocytokines vaspin, apelin, and visfatin in the loss of appetite in underweight children: a pilot trial
- Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
- Waist-to-height ratio as a screening measure for identifying adolescents with hypertriglyceridemic waist phenotype
- Assessment and relation of total and regional fat mass with bone mineral content among Indian urban adolescents
- Evaluation of the relationship between serum adropin levels and blood pressure in obese children
- Swallowed glucocorticoid therapy for eosinophilic esophagitis in children does not suppress adrenal function
- Response of vitamin D binding protein and free vitamin D concentrations to vitamin D supplementation in hospitalized premature infants
- Can school health check-ups serve as screening tool for growth anomalies and obesity in children?
- The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
- Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
- Clinical characteristics of children referred for signs of early puberty before age 3
- Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty
- Anti-Müllerian hormone in children: a ten-year prospective longitudinal study (EarlyBird 39)
- Patient reports
- A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
- Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves’ disease
- Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism
- Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
- Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations
- Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency
- Short communication
- Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
- Letters to the Editor
- Psychiatric disorders are associated with increased risk for developing hyponatraemia in children
- Rett syndrome and precocious puberty association
Articles in the same Issue
- Frontmatter
- Highlight: Growth hormone
- Growth hormone and growth hormone deficiency – still a lot to learn
- Dynamic changes in the hypothalamic- pituitary-adrenal axis during growth hormone therapy in children with growth hormone deficiency: a multicenter retrospective study
- Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children
- Carotid intima-media thickness in children treated with growth hormone
- The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency
- Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa
- Growth hormone deficiency in a patient with mitochondrial disease
- Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
- Review articles
- Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
- Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
- Original articles
- Carotid intimal medial thickness and its relation to endothelial dysfunction and echocardiographic changes in adolescents with type 1 diabetes
- Insulin dynamics and biochemical markers for predicting impaired glucose tolerance in obese Thai youth
- Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood
- Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study
- Role of circulating adipocytokines vaspin, apelin, and visfatin in the loss of appetite in underweight children: a pilot trial
- Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
- Waist-to-height ratio as a screening measure for identifying adolescents with hypertriglyceridemic waist phenotype
- Assessment and relation of total and regional fat mass with bone mineral content among Indian urban adolescents
- Evaluation of the relationship between serum adropin levels and blood pressure in obese children
- Swallowed glucocorticoid therapy for eosinophilic esophagitis in children does not suppress adrenal function
- Response of vitamin D binding protein and free vitamin D concentrations to vitamin D supplementation in hospitalized premature infants
- Can school health check-ups serve as screening tool for growth anomalies and obesity in children?
- The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia
- Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
- Clinical characteristics of children referred for signs of early puberty before age 3
- Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty
- Anti-Müllerian hormone in children: a ten-year prospective longitudinal study (EarlyBird 39)
- Patient reports
- A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
- Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves’ disease
- Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism
- Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
- Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations
- Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency
- Short communication
- Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
- Letters to the Editor
- Psychiatric disorders are associated with increased risk for developing hyponatraemia in children
- Rett syndrome and precocious puberty association
