Incidence of disorders of sexual development in neonates in Ghana: prospective study

Ameyaw, Emmanuel; Asafo-Agyei, Serwah Bonsu; Hughes, Ieuan A.; Zacharin, Margaret; Chanoine, Jean‐Pierre

doi:10.1136/archdischild-2019-316986

Cited by 11 publications

(17 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The third category is abnormalities caused by mutations that cause absent, incomplete gonads or asymmetric differentiation of the gonads. It is important to understand the underlying pathophysiology in order to make an accurate diagnosis and to plan optimal management strategies [1,[7][8][9] .…”

Section: Discussionmentioning

confidence: 99%

How are the characteristics of patients of disorders of sex development in Indonesia?

Indriasari¹,

Anita²,

Diposarosa³

2021

Int. J. Surg. Sci.

View full text Add to dashboard Cite

Background: Disorders of sex development (DSD) is a congenital condition in which there are disorders of sex development on chromosomes, gonads, and anatomy. The spectrum of these disorders is very broad, so that its incidence and characteristics are difficult to identify. The aim was to describe the characteristics of DSD patients at our institution. Methods: This is a retrospective descriptive of patients diagnosed with DSD in the period January 2017 -December 2019. Data were taken from medical records including ages, type of DSD and their management. Results: There were 70 patients with DSD, with a mean age of 6,74 years (range 0-19 years). Sixty four patients (91,42%) were raised as boys, with genotype 46 XY 90,62%, 46 XX 4,68%, 45 XO-46 XY 3,12%, and 47 XXY 1,56%. A total of 6 patients with genotype 46 XX (8,57%) were raised as girls. Four cases were DSD 46 XX (CAH 2,8%), DSD 46 XY was present in 54 cases, while chromosomal DSD was present in 4 cases including ovotesticular type, testicular type, Klinefelter Syndrome, embryogenic testis regression, and persistent Mullerian Tract Syndrome. A total of 2,8% experienced gender reassignment to become girls and 2,8% become boys. There were 78,57% who had undergone masculinized genitoplasty, 7,14% had undergone feminization genitoplasty, 14,28% had not undergone surgery, and 2,8% had not yet determined their gender. Summary: DSD patients at our institution presented in preschool, with a predominantly 46 XY genotype, most of whom did not undergo gender reassignment, and surgical management was gender-adjusted.

show abstract

Section: Discussionmentioning

confidence: 99%

How are the characteristics of patients of disorders of sex development in Indonesia?

Indriasari¹,

Anita²,

Diposarosa³

2021

Int. J. Surg. Sci.

View full text Add to dashboard Cite

show abstract

“…This is a reminder of the importance of careful examination of the genitalia in the neonate, which is not routinely performed in many parts of Africa. It provides a unique opportunity to identify clitoromegaly and to perform an early diagnosis of CAH in affected infants [2]. Clitoromegaly may also be part of complex disorders, including Russell-Silver Syndrome, Beckwith-Wiedemann Syndrome and Fraser syndrome [15].…”

Section: Discussionmentioning

confidence: 99%

“…Mean AGD from reference study [7] was AGD of 13.89 ± 2.6 mm. A margin of error of 1/3 mm (0.33 mm) was desired { N = (1.96 × 2.6/0.33) [2] = 239}.…”

Section: Methodsmentioning

confidence: 99%

“…A delay, for any reason in assigning the sex could be distressing for the doctor, the midwife as well as having a significant psychosocial effect on the parents and family [1]. Apart from sex assignment, it is essential that genitalia be routinely and carefully examined with other anthropometric parameters in the newborn as this may aid early detection of life-threatening conditions such as congenital adrenal hyperplasia (CAH) [2].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clitoral sizes and anogenital distances in term newborns in Nigeria

Adekoya

Fetuga

Jarrett

et al. 2019

Int J Pediatr Endocrinol

Self Cite

View full text Add to dashboard Cite

BackgroundPrevious studies suggest significant ethnic and racial differences in clitoral sizes and anogenital distances in the newborn. This study aimed to document normative data on clitoral sizes and anogenital distances of apparently normal term female infants in Sagamu.MethodsThe study was a multi-center, cross-sectional descriptive research carried out among 317 female term infants within the first 72 h of life. Interviewer-based questionnaire was applied to obtain sociodemographic data, pregnancy and birth history. A sliding digital caliper was used for measurement. Data analysis was with SPSS version 20.0.ResultsThe mean clitoral length was 6.7 ± 1.6 mm while the mean clitoral width was 5.6 ± 0.8 mm. The mean fourchette-clitoris distance, anus-clitoris distance and anus-fourchette distance were 21.9 ± 2.1 mm, 35.5 ± 2.5 mm and 17.0 ± 2.6 mm respectively. The anus-clitoris and anus-fourchette distances significantly correlated with the anthropometric parameters while the clitoral measurements did not.ConclusionThe mean values recorded in this study were higher than observed in most previous studies. This simple, affordable and non-invasive evaluation could aid early diagnosis and treatment of female infants with potentially harmful conditions such as congenital adrenal hyperplasia.

show abstract

“…Congenital adrenal hyperplasia (CAH) and mixed gonadal dysgenesis (MGD) are the most common causes of ambiguous genitalia, constituting approximately over 50% of all cases of genital ambiguity in the newborn period [9]. The incidence of CAH and MGD worldwide is 1 : 15,000 and 1 : 10,000, respectively, but varies considerably among different populations [10–12].…”

Section: Introductionmentioning

confidence: 99%

Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

Amolo¹,

Laigong

Omar

et al. 2019

International Journal of Endocrinology

View full text Add to dashboard Cite

Objective The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods This retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude's Children's (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results Data from the records of 71 children and adolescents were reviewed at KNH (n = 57, 80.3%) and GCH (n = 14, 19.7%). The mean age at the time of diagnosis was 2.7 years with a median of 3 months. Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p=0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. The most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms. An ambiguous genitalia was initially observed by the patient's mother in 51.6% of 62 cases despite the high rate (84.7%) of delivery in hospital. Seventeen (23.9%) of the cases had a gender reassignment at final diagnosis. A psychologist/psychiatrist or counselor was involved in the management of 23.9% of the patients. Conclusion The commonest presumed cause of DSD was ovotesticular DSD in contrast to western studies, which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but financial challenges made it impossible. A network for detailed diagnostics in resource-limited countries would be highly desirable. There is a need to train health care workers and medical students for early diagnosis. Psychological evaluation should be carried out for all patients at diagnosis and support given for families.

show abstract

Incidence of disorders of sexual development in neonates in Ghana: prospective study

Cited by 11 publications

References 12 publications

How are the characteristics of patients of disorders of sex development in Indonesia?

How are the characteristics of patients of disorders of sex development in Indonesia?

Clitoral sizes and anogenital distances in term newborns in Nigeria

Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

Contact Info

Product

Resources

About