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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.
SBA Answers and Explanations
Published in Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury, SBAs for the MRCS Part A, 2018
Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury
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.
Neck and endocrine
Published in Michael Gaunt, Tjun Tang, Stewart Walsh, General Surgery Outpatient Decisions, 2018
Adrenal hyperplasia: medical therapy. Treat hypertension with spironolactone 100 mg/ day rising to 400 mg/day until potassium returns to normal, then reduce the dose. Resistant hyperplasia requires total or subtotal adrenalectomy.
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).
A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
Published in Gynecological Endocrinology, 2021
Xudong Guo, Hanbo Wang, Yuzhu Xiang, Xiangbin Ren, Shaobo Jiang
The present patient exhibited hypokalemia at age 14 and presented hypertension until her 30 s. In addition, the classical clinical manifestation such as tall stature, delayed bone age, and sexual infantilism were observed for this patient. These symptoms were consistent with the almost completely destroyed activity of 17α-hydroxylase and 17, 20-lyase caused by both mutations. Most of the patients present with adrenal hyperplasia in radiographic findings, while adrenal tumors are extremely rare in 17-OHD. Ogawa reported the first patient with 17OHD, who had a right adrenal tumor and left adrenal mild hyperplasia [16]. In our patient, contrast-enhanced CT showed a right adrenal mass with diameter of 4 cm and mild hyperplasia of left adrenal gland; considering of only hypertension, hypokalemia, and elevated ARR but not sex malformation and other hormonal abnormalities may be deceptive. Thus, CAH should be excluded in a case of clinical suspicion or when adrenalectomy is considered. Hypertension and hypokalemia can be relieved or even normalized in the majority of patients of 17OHD after regular glucocorticoid therapy by inhibiting the hypersecreted ACTH. The blood pressure and plasma potassium of our patient were approximately within the normal range after treatment with oral dexamethasone therapy (0.375 mg/d) for 3 months.
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation
Published in Endocrine Research, 2020
A. Daussac, P. Barat, N. Servant, M. Yacoub, S. Missonier, F Lavran, L. Gaspari, C. Sultan, F. Paris
Testotoxicosis usually becomes symptomatic by 2–4 years of age1, as we observed for our patient. Nevertheless, some authors have described testotoxicosis in much younger patients of less of 12 months.10,17 These patients all presented with gonadotropin-independent precocious puberty, leading to rapid virilisation and accelerated linear growth and skeletal maturation, with reduced final adult height. It is important to note that the initial presentation of our patient, with the association of virilisation, tall stature, advanced bone age and autonomous testosterone hypersecretion, could have led to the misdiagnosis of late onset congenital adrenal hyperplasia (CAH). However, in testotoxicosis, the normal plasma adrenal steroid profile excludes the diagnosis of CAH. In these patients, molecular analysis of the LHCGR gene is useful to confirm the clinical and hormonal diagnosis of testotoxicosis.