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Published in Samar Razaq, 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.
Endocrinology and gonads
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
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.
Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
The next step is to reach out to a multidisciplinary DSD team to discuss initial appropriate tests and plan for further evaluation. A stat karyotype with FISH for SRY is particularly helpful to begin narrowing the differential. Testing for congenital adrenal hyperplasia, which is the most common cause of ambiguous genitalia, is particularly important to provide appropriate early treatment to avoid a salt-wasting crisis. Additionally, a pelvic ultrasound in the newborn may be more sensitive for the presence of the uterus given the stimulation of the uterus from maternal hormones.
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).
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1
Published in Gynecological Endocrinology, 2019
Sabina Zacharieva, Ralitsa Robeva, Silvia Andonova, Radoslava Vazharova, Lubomir Balabanski, Maya Atanasoska, Draga Toncheva, Atanaska Elenkova, Alexey Savov
Congenital adrenal hyperplasia (CAH) represents a group of disorders associated with inborn enzyme defects of the adrenal steroidogenesis. 21-Hydroxylase deficiency (CAH21) is responsible for the vast majority of the CAH cases. The next most common enzyme disorder is 11β-hydroxylase deficiency (CAH11β) that affects about 5–8% of patients [1–3]. The pronounced hyperandrogenism in both conditions might lead to ambiguous genitalia in females, as well as peripheral precocious puberty in males [1–5].