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The adrenal glands and other abdominal endocrine disorders
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
When symptoms develop over time, patients present with anorexia, weakness and nausea. As a result of negative feedback, ACTH and pro-opiomelanocortin (POMC) levels increase and cause hyperpigmentation of the skin and oral mucosa. Hypotension, hyponatraemia, hyperkalaemia and hypoglycaemia are commonly observed. The diagnosis of adrenal insufficiency is made using the ACTH stimulation test. Basal ACTH levels are found to be high with cortisol levels decreased. There is no rise in cortisol levels following the exogenous administration of ACTH (synacthen test).
Endocrine disorders
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Michael Skinner, Eduardo Perez
Any newborn with ambiguous genitalia, or any newborn with male external genitalia and bilateral cryptorchid testes, should be tested for this disorder. Laboratory evaluation should include a karyotype analysis and serum 17-hydroxyprogesterone, electrolytes, blood urea nitrogen and glucose. A serum 17-hydroxyprogesterone level above 1000 mg/dL indicates CAH due to 21-hydroxylase deficiency. An ACTH stimulation test can be confirmatory.
Polycystic Ovary Syndrome
Published in Steven R. Bayer, Michael M. Alper, Alan S. Penzias, The Boston IVF Handbook of Infertility, 2017
Rita M. Sneeringer, Kristen Page Wright
Importantly, the Rotterdam criteria, in addition to the NIH and AES criteria, require the exclusion of other etiologies of menstrual irregularities and hyperandrogenism. Possible other diagnoses include adrenal or ovarian androgen-secreting neoplasm, hyperprolactinemia, syndromes of severe insulin resistance, thyroid dysfunction, congenital adrenal hyperplasia, Cushing’s syndrome, and acromegaly. Typically, the measurement of thyroid-stimulating hormone, prolactin, glucose, insulin, and an androgen panel (DHEA-S, testosterone, and 17-OH progesterone) is sufficient to exclude other major causes if normal levels are noted. Specific testing for Cushing’s syndrome and acromegaly is done if suspected based on history or phenotypic changes noted on physical exam (e.g., striae, round face, dorsal fat pad, central obesity, uncontrolled hypertension, increased glove or shoe size). For patients who have either severe or rapid onset of hyperandrogenic symptoms, an alternative diagnosis should be suspected as this is atypical for PCOS. Virilization (clitoromegaly, male-pattern frontal balding, or increased musculature) may also suggest tumor development. An androgen-secreting tumor would typically contribute to serum testosterone levels greater than 150–200 ng/dL or DHEA-S levels above 700 μg/dL in premenopausal women. Congenital adrenal hyperplasia is suspected if 17-OH progesterone level is elevated. Further assessment with an ACTH stimulation test should be performed when a morning 17-OH progesterone level performed in the follicular phase is >200 ng/dL.
Ovarian steroid cell tumor (not otherwise specified) with subsequent spontaneous pregnancy after tumor removal: a case report and literature review
Published in Gynecological Endocrinology, 2023
Phawat Matemanosak, Krantarat Peeyananjarassri, Chitkasaem Suwanrath, Saranya Wattanakumtornkul, Satit Klangsin, Ekasak Thiangphak, Kanet Kanjanapradit
Differentiating androgen-producing tumors from CAH can be challenging. Wong et al. [13] recently reviewed 21 cases of steroid cell tumor NOS with pretreatment 17-OHP results and found a prevalence of elevated 17-OHP levels of 81%. Thus, elevated 17-OHP is commonly observed in steroid cell tumor NOS, which is consistent with our patient. Among the 17 cases with elevated 17-OHP levels, five were initially diagnosed with non-classic CAH, resulting in delayed diagnosis of steroid cell tumors because of the ambiguity of diagnostic testing. For instance, a significant increase in 17-OHP after adrenocorticotropic hormone (ACTH) stimulation is typical for congenital adrenal hyperplasia, whereas the ACTH stimulation test in most patients diagnosed with steroid cell tumors resulted in no response or insignificant changes. Surprisingly, 20% of these patients demonstrated positive 17-OHP responses to ACTH stimulation owing to the presence of ACTH receptors on these tumors. Therefore, 17-OHP responsiveness to ACTH stimulation in steroid cell tumors may lead to an incorrect diagnosis of CAH. In the present case, the ACTH stimulation test was not performed, and the patient proceeded directly to surgical treatment.
The role of serum osteoprotegerin level in diagnosis of disease and determining cardiovascular risk of polycystic ovary syndrome
Published in Gynecological Endocrinology, 2020
Zeynep Cetin, Dilek Berker, Berna Okudan, Muhammed Kilinckaya, Turan Turhan, Merve Catak
Eighty-five premenopausal women were included in the study. Fiftyseven of these women were newly diagnosed as PCOS and 28 were included as control group. None of them used drugs affecting metabolism and gynecological hormone parameters and had concomitant systemic disease. We excluded other causes of hyperandrogenism (congenital adrenal hyperplasia (CAH), Cushing’s syndrome, drugs, androgen-secreting tumors, etc.). The body mass indexes and the Ferriman-Gallwey score of patients with excessive hair growth were calculated, smoking, menstrual order, acne, seborrhea and androgenic alopecia were questioned. One mg oral dexamethasone suppression test was performed to rule out Cushing’s syndrome, and adrenocorticotropic hormone (ACTH)-stimulation test was performed in patients with high basal 17-hydroxy(OH) progesterone levels.
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
The child had a bone age of 8 years (a 4-year advance). Endocrinological findings are summarized in Table 1. The serum testosterone level was markedly elevated to 8.4 nmol/L (normal prepubertal level: <0.3 nmol/L). Inhibin was 121 pg/mL (N: <400 pg/mL). Basal LH and FSH levels were low (LH<0.2 UI/L; FSH<0.6 UI/L) and there was no LH response to the LHRH stimulation test, excluding central precocious puberty. IGF1 was 368 ng/ml, correlated with Tanner stage II (P2 range: 316 ± 145 ng/ml). DHEAS was low at 0.6 µmol/L (N: 0.08–2.31 µmol/L) and 17OHP was normal for age at 1.5 nmol/L (N: 0.25–1.6 nmol/l). The ACTH stimulation test and adrenal ultrasound were normal. Alpha fetoprotein (<4 ng/mL; N: <7 ng/mL) and total HCG (<2 UI/L; N: <8 UI/L) were negative. Thyroid function was normal.