The child of uncertain sex: 17 years of experience

Al-Agha, A E; Thomsett, M. J.; Batch, J. A.

doi:10.1046/j.1440-1754.2001.00669.x

Cited by 45 publications

(43 citation statements)

References 14 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In genitalia apparently female in appearance clitoral diameter greater than 6 mm, palpable gonad within labioscrotal fold, posterior labial fusion, an inguinal mass which could correspond to testicles signifies ambiguity. In this study as in mostother studies, [9,14,15,18] the commonest presentations of ambiguous external genitalia are clitoral hypertrophy, significant micropenis, fusion of labioscrotal fold, hypospadias, absent urethral opening and non-palpable gonads. In this study, all patients had clitoral hypertrophy.…”

Section: Discussionsupporting

confidence: 70%

“…The genetic sex of most of our patients were not determined to determine the presentations of the females and males, however this number was small to make a specific conclusion. Though none of our patients had a family history or associated gross extra genital malformations, these are possible findings [9]. In the Study in Saudi Arabia, [9] 11(26.8%) patients had extra genital malformation and there was a positive family history in 3 children.…”

Section: Discussionmentioning

confidence: 57%

“…Clitoral hypertrophy was recorded in 92.9% and 77.2% of cases in a Saudi Arabian and Australian study respectively [9,18]. Clitoral hypertrophy is also the commonest finding in patients with 46XX DSD [9,15]. In the study done in Saudi Arabia amongst 40 neonates in 2009, 14 where genetic females out of which 13(92.9%) had clitoral hypertrophy.…”

Section: Discussionmentioning

confidence: 99%

“…In this study, all patients had clitoral hypertrophy. Clitoral hypertrophy was recorded in 92.9% and 77.2% of cases in a Saudi Arabian and Australian study respectively [9,18]. Clitoral hypertrophy is also the commonest finding in patients with 46XX DSD [9,15].…”

Section: Discussionmentioning

confidence: 99%

“…The commonest reported cause of ambiguous external genitalia from studies is congenital adrenal hyperplasia (CAH) due to deficiency in enzymes needed in cortisol biosynthesis leading to excess of androgens [8,9].The birth of a child with ambiguous genitalia still representsan enormous challenge especially in developing countries with limited diagnostic and therapeutic facilities,for this reason, the structuring of diagnostic procedures,decision making and therapeutic interventions for a child with ambiguous genitalia should involve a highly specialised team of physicians of different subspecialties. An expert to give psychosocial care is also needed to counsel parents and patients accordingly.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Jaja¹,

Anochie²,

Paediatrician³

2011

Pediatr Therapeut

View full text Add to dashboard Cite

Ambiguous external genitalia are a major cause of parental anxiety and a challenge to paediatricians in developing countries. Aims and objectives:This study aims to highlight the pattern of presentation and challenges in the management of ambiguous external genitalia in a developing country. Patients and methods:A prospective study of all patients with ambiguous external genitalia managed in the paediatric endocrine unit of the University of Port Harcourt Teaching Hospital between January 2008 and Dec 2010 was done. Biodata, clinical presentation, management and outcome were documented.Results: Six patients were seen with ambiguous external genitalia during the study period. Age ranged from birth to 16 years at presentation. The commonest presentation was clitoral hypertrophy in all patients. The commonest initial diagnosis was CAH.Definitive confirmation of cause of ambiguous external genitalia with a reconstructive surgery was done in only one patient due to non-availability and high cost of investigation. Three (50%) patients were lost to follow up of which 2(66.7%) have resorted to spiritual treatment. One patient who presented at 16 years of age died from an associated obstructive uropathy with chronic renal failure. Conclusion:The challenges in managing children with ambiguous external genitalia in developing countries include late presentation, high cost andnon-availability of investigations for making definitive diagnosis.

show abstract

Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Jaja¹,

Anochie²,

Paediatrician³

2011

Pediatr Therapeut

View full text Add to dashboard Cite

show abstract

Does cholesterol use the mitochondrial contact site as a conduit to the steroidogenic pathway?

Thomson

2003

BioEssays

View full text Add to dashboard Cite

The first and rate-limiting step of steroidogenesis is the transfer of cholesterol from the outer mitochondrial membrane to the inner membrane where it is converted to pregnenolone by cytochrome P450 side-chain cleavage (P450scc). This reaction is modulated in the gonads and adrenals by the steroidogenic acute regulatory protein (StAR), however, the mechanism used by StAR is not understood. The outer and inner mitochondrial membranes are joined at contact sites that are thought to be held in place by protein complexes that bridge the two membranes. While it is generally accepted that proteins are imported into the mitochondrion via contact sites, it is not clear whether cholesterol takes the same conduit to the inner membrane. Strategies to combat diseases caused by interrupted cholesterol transfer will rely on a full understanding of the steroidogenic mechanism. The challenge for the future is to determine whether StAR relies on the molecular architecture that spans the mitochondrial intermembrane space to deliver its cargo.

show abstract