Answers
Samar Razaq in Difficult Cases in Primary Care, 2021
Congenital adrenal hyperplasia is a group of disorders inherited in an autosomal recessive pattern. They are characterised by abnormal adrenal corticosteroid production due to a deficiency in one of five enzymes involved in their production. A 21-hydroxylase deficiency accounts for the commonest form of CAH, leading to cortisol deficiency with or without aldosterone deficiency. The resultant increase in adrenocorticotrophic hormone stimulates hyperplasia of the adrenal glands. Since cortisol production is defective, its precursors, in the form of adrenal androgens, poor out into the bloodstream causing virilisation in the child. In girls this may cause enlargement of the clitoris to the point that she may be mistaken for a normal male. Internal organ development is normal. Diagnosis in boys is usually in early childhood, as there is abnormal enlargement of the penis and rapid growth. In the more severe form of CAH (salt-wasting form), the zona glomerulosa of the kidney is also involved, resulting in loss of urinary sodium. The child will present with dehydration, vomiting and shock.
SBA Answers and Explanations
Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury in SBAs for the MRCS Part A, 2018
Congenital adrenal hyperplasia (or adrenogenital syndrome) represents a group of autosomal recessive, inherited metabolic disorders characterized by a deficiency in a particular enzyme involved in the biosynthesis of cortical steroids, particularly cortisol and aldosterone. 21-hydroxylase deficiency accounts for 90 per cent of cases. Steroidogenesis is then channelled into other pathways leading to increased production of androgens, leading to virilization in females and genital enlargement and/or precocious puberty in males. Simultaneously, the deficiency of cortisol results in increased secretion of ACTH, resulting in adrenal hyperplasia. Impaired aldosterone secretion leads to salt wasting. Patients are treated with exogenous steroids which, in addition to providing adequate levels of glucocorticoids, suppress ACTH levels and thus decrease the synthesis of the steroid hormones responsible for many of the clinical abnormalities.
Endocrinology and gonads
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
11.13. A female infant is born with virilization of the external genitalia. Plasma 17-hydroxyprogesterone and ACTH levels are elevated. Which of the following statements is/are true?Congenital adrenal hyperplasia is the most likely diagnosis.The baby would have normal internal genitalia.The mother has been treated with progestogens.A salt-losing tendency may be present in this infant.The bone age may be normal.
Persistent Labial Minora Fusion in Reproductive Age Women: A Retrospective Case Series of Nine Patients and Review of Literature
Published in Organogenesis, 2021
Ze Liang, Juan Chen, Xin Yu, Lan Zhu
By applying the ICD-10 code (labial fusion, Q52.500) in the screening database of our Hospital, 17 patients were selected. Four patients with cloacal anomalies and undergone anoplasty before 3 years of age were excluded because this procedure is a potential risk factor for labial adhesion involving genital cutting.16 Two patients were excluded for maternal usage of androgen during pregnancy. Two patients were excluded for diagnosis of congenital adrenal hyperplasia (CAH). A total of 9 medical histories of labial fusion in women of reproductive age were reviewed. All medical records were complete, with general information, medical histories, physical examination data, laboratory test data, and ultrasound data for urinary and genital systems (Table 2).
Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center
Published in Fetal and Pediatric Pathology, 2021
Filiz Halici Öztürk, Fatma Doga Öcal, Seyit Ahmet Erol, Kadriye Yakut, Merve Öztürk, Yüksel Oguz, Esra Sükran Çakar, Sevki Celen, Ali Turhan Çaglar
Chorionic villus sampling (CVS) and amniocentesis are the most used invasive diagnostic procedures offered to high-risk patients. American College of Obstetricians and Gynecologists (ACOG) recommended that not only high-risk patients, but all pregnant women should also be informed about prenatal diagnostic tests [4]. CVS is performed between 10-14 weeks of gestation, in which placental tissue samples are obtained for fetal genetic diagnosis. CVS is a safe and reliable method for first-trimester prenatal diagnosis when undertaken in experienced centers [5–6]. CVS gained importance in the definitive diagnosis of genetic disorders thanks to the development of the effective first-trimester screening tests that enable the detection of high-risk patients in early pregnancy [7]. The detection of fetal chromosomal abnormalities in the first trimester allows early termination with less morbidity. In some cases, it provides targeted fetal treatment (e.g. congenital adrenal hyperplasia). While CVS has the advantage of early diagnosis, its results have more diagnostic uncertainty than second-trimester invasive prenatal tests due to maternal cell contamination, mosaicism, and culture failure [8–10].
Intersex or Diverse Sex Development: Critical Review of Psychosocial Health Care Research and Indications for Practice
Published in The Journal of Sex Research, 2019
Katrina Roen
One study that identified the variety of interwoven issues that parents face in their interactions with health professionals is Boyse et al.’s (2014) interview-based study about parents’ experiences and needs following their newborn child’s diagnosis of congenital adrenal hyperplasia (CAH). This study highlights the “strong emotions” associated with learning of a child’s diagnosis and particularly the experience of “feeling overwhelmed in facing the prospect of caring for their infant, and a limited ability to absorb the information provided” (Boyse et al., 2014, p. 438). These researchers documented parents’ struggles with medical jargon, the absence of support to interpret and evaluate online information sources, and the unmanageable pace of information giving. Boyse et al. (2014) suggested that parents need “reassurance that many babies are born with CAH or other congenital conditions, their parents successfully learn to care for them, and the children have the potential to grow up healthy and happy” (p. 438). This study highlighted a concern about giving medical information without taking into account the factors impacting parents’ ability to absorb that information, including their emotional state, their health literacy, and the volume of information given at once. In conclusion, these researchers drew from other areas of health research to suggest, “Giving information on several occasions over a period of time makes it easier to understand, accept and reflect upon” (Boyse et al., 2014, p. 439).
Related Knowledge Centers
- Adrenal Cortex
- Biosynthesis
- Cortisol
- Enzyme
- Glucocorticoid
- Mineralocorticoid
- Hormone
- Sex Hormone
- Sex Organ
- Secondary Sex Characteristic