Genetics and Pathophysiology of Congenital Adrenal Hyperplasia

Witchel, Selma F.

doi:10.1007/978-3-319-62470-9_5

Cited by 4 publications

(6 citation statements)

References 75 publications

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“…mentioned that DSD patient may have more than one disorder at the same time and this might affect the results as all persistent Müllerian duct syndrome patients included in the current study had a unilateral or bilateral undescended testes which certainly can affect AMH production. Although CAH is characterized by elevated levels of adrenal androgens [20]. serum levels of testosterone and DHT in most females diagnosed CAH in the present study showed no significance difference from healthy control fellows (P=.28, .30 respectively).…”

Section: Consanguinity N(%)contrasting

confidence: 69%

Value of Anti-Müllerian Hormone ‎in Diagnosis and Management of Children with Disorders of Sex Development

Ibrahim

Kamal

Al-Gobashy

et al. 2019

Zagazig University Medical Journal

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Background: The aim of the study was to investigate the serum levels of Anti-Müllerian hormone (AMH) in children with disorders of sex development and its correlation with other diagnostic investigations to assess the ability of AMH to predict the presence and function of testicular tissue. Methods: The study was carried out at the pediatric, pediatric surgery and clinical pathology departments at Zagazig University Hospitals (ZUH) during the period from February 2018 to December 2018. The study was performed on 40 infants and children below the age of ten years. They were divided into two groups, control and DSD groups, each group contained 20 participants. Children were subjected to full history taking, precise clinical examination, and investigations that included ultrasonography, karyotyping and biopsies. In addition, serum AMH, testosterone and dihydrotestosterone (DHT). Statistical analysis using suitable significance tests was performed. Results: Specificity and sensitivity of testosterone and DHT in detection of testicular activity were 100% for both while they were 91.7% and 100% respectively for AMH in 46,XY DSD. Conclusion: Serum testosterone and DHT had a better diagnostic role in 46.XY DSD than AMH while in 46,XX DSD, AMH is better.

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Section: Consanguinity N(%)contrasting

confidence: 69%

Value of Anti-Müllerian Hormone ‎in Diagnosis and Management of Children with Disorders of Sex Development

Ibrahim

Kamal

Al-Gobashy

et al. 2019

Zagazig University Medical Journal

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“…Classic CAH comprises a group of autosomal recessive disorders that cause the deficiency of specific enzymes involved in the adrenal steroidogenesis. The common form is 21-hydroxylase deficiency (21-OHD) due to mutations in the 21-hydroxylase (CYP21A2) gene; other virilizing forms include 3β-hydroxysteroid dehydrogenase and 11β-hydroxylase deficiencies, associated with mutations in the 3β-hydroxysteroid dehydrogenase (HSD3B2) and 11β-hydroxylase (CYP11B1) genes, respectively 42 . The features associated with classic CAH encompass a wide clinical spectrum reflecting the specific mutation, and the clinical manifestations of 21-OHD deficiency range from salt-losing syndrome and severe virilizing forms to the mild forms.…”

Section: XX and 46xy Female Athletes Affected By Hyperandrogenismmentioning

confidence: 99%

“…Both male and female children with CAH can present with premature pubarche, tall stature, accelerated linear growth velocity, and advanced skeletal maturation. Symptoms of CAH in adolescent females include hirsutism, irregular menses, chronic anovulation, acne, and infertility, with hirsutism being the most common presenting feature 42 43 44…”

Section: XX and 46xy Female Athletes Affected By Hyperandrogenismmentioning

confidence: 99%

“…Late-onset CAH is also known as the non-classic form, and it is considered the mild form of CAH. However, this classification system is somewhat artificial because disease severity is better represented as a continuum based on residual enzyme activity 42 . Late-onset CAH is more common than the classic forms, with an incidence of 1:1000 vs. an incidence range of 1:5000 to 1:15,000, respectively 49 .…”

Section: XX and 46xy Female Athletes Affected By Hyperandrogenismmentioning

confidence: 99%

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Clinical Concerns on Sex Steroids Variability in Cisgender and Transgender Women Athletes

et al. 2022

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In the female athletic community, there are several endogenous and exogenous variables that influence the status of the hypothalamus-pituitary-ovarian axis and serum sex steroid hormones concentrations (e. g., 17β-estradiol, progesterone, androgens) and their effects. Moreover, female athletes with different sex chromosome abnormalities exist (e. g., 46XX, 46XY, and mosaicism). Due to the high variability of sex steroid hormones serum concentrations and responsiveness, female athletes may have different intra- and inter-individual biological and functional characteristics, health conditions, and sports-related health risks that can influence sports performance and eligibility. Consequently, biological, functional, and/or sex steroid differences may exist in the same and in between 46XX female athletes (e. g., ovarian rhythms, treated or untreated hypogonadism and hyperandrogenism), between 46XX and 46XY female athletes (e. g., treated or untreated hyperandrogenism/disorders of sexual differentiation), and between transgender women and eugonadal cisgender athletes. From a healthcare perspective, dedicated physicians need awareness, knowledge, and an understanding of sex steroid hormones’ variability and related health concerns in female athletes to support physiologically healthy, safe, fair, and inclusive sports participation. In this narrative overview, we focus on the main clinical relationships between hypothalamus-pituitary-ovarian axis function, endogenous sex steroids and health status, health risks, and sports performance in the heterogeneous female athletic community.

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“…Higher dosages of hydrocortisone may be required to achieve acceptable androgen suppression, resulting in hypercortisolism. [3][4][5] According to current literature, the periods when height outcome is also most sensitive to glucocorticoid intake include infancy and puberty. 6,7 The assessment of a specific five biochemical investigation along growth velocity and skeletal maturation is used to monitor treatment throughout these important periods.…”

Section: Introductionmentioning

confidence: 99%

Growth Characteristics in Children with Congenital Adrenal Hyperplasia Visiting Tertiary Care Hospital, Karachi

Qayyum

Rani²,

Memom³

et al. 2023

PAFMJ

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Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study. Place and Duration of Study: Paediatrics Department, National Institute of Child Health, Karachi Pakistan, from Nov 2018 to May 2019. Methodology: All patients who visited the OPD were included in the study. Growth characteristics like underweight, normal BMI, overweight, obese and short stature were recorded. This information, along with the age of diagnosis, family history of CAH, parental consanguinity, family history of CAH or any abortion or prenatal death, were noted. Results: The mean age of the patients was 7.40±2.34 years. Out of 69 congenital adrenal hyperplasia patients, 41(59.4%) were males, and 28(40.6%) were females. The short suture was noted in 53(76.8%) patients. 19(27.5%) were underweight, 6(8.7%) were normal weight, 10(14.5%) were overweight, and 34(49.3%) patients w ere obese. Conclusion: A significant effect of congenital adrenal hyperplasia was documented in the children.

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Genetics and Pathophysiology of Congenital Adrenal Hyperplasia

Cited by 4 publications

References 75 publications

Value of Anti-Müllerian Hormone ‎in Diagnosis and Management of Children with Disorders of Sex Development

Value of Anti-Müllerian Hormone ‎in Diagnosis and Management of Children with Disorders of Sex Development

Clinical Concerns on Sex Steroids Variability in Cisgender and Transgender Women Athletes

Growth Characteristics in Children with Congenital Adrenal Hyperplasia Visiting Tertiary Care Hospital, Karachi

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