{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:23:40Z","timestamp":1760189020354},"reference-count":19,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1976,9,1]]},"DOI":"10.1136\/adc.51.9.721","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:14:24Z","timestamp":1229980464000},"page":"721-723","source":"Crossref","is-referenced-by-count":22,"title":["Female phenotype in a male child due to 17-alpha-hydroxylase deficiency."],"prefix":"10.1136","volume":"51","author":[{"given":"G F","family":"Heremans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Moolenaar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H H","family":"van Gelderen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"issue":"41","key":"ref_1","article-title":"A genetic study of infantile and juvenile myasthenia gravis","volume":"35","author":"Bundey, S.","year":"1972","unstructured":"Bundey, S. (1972). A genetic study of infantile and juvenile myasthenia gravis. Journal of Neurology, Neurosurgery and Psychiatry, 35,41.","journal-title":"Journal of Neurology, Neurosurgery and Psychiatry"},{"key":"ref_2","first-page":"45","article-title":"The Floppy Infant","author":"Dubowitz, V.","year":"1969","unstructured":"Dubowitz, V. (1969). The Floppy Infant, p. 45. Heinemann, London."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1212\/WNL.10.11.1007","article-title":"Diagnosis and treatment of myasthenia gravis in infancy, childhood and adolescence","volume":"10","author":"Millichap, J.G.; Dodge, P.R.","year":"1960","unstructured":"Millichap, J. G., and Dodge, P. R. (1960). Diagnosis and treatment of myasthenia gravis in infancy, childhood and adolescence. Neurology, 10, 1007.","journal-title":"Neurology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1001\/archneur.1971.00490010059009","article-title":"Familial myasthenia gravis","volume":"25","author":"Namba, T.; Brunner, N.G.; Brown, S.B.; Muguruma, M.; Grob, D.","year":"1971","unstructured":"Namba, T., Brunner, N. G., Brown, S. B., Muguruma, M., and Grob, D. (1971). Familial myasthenia gravis. Archives of Neurology, 25, 49.","journal-title":"Archives of Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1001\/jama.1937.02780090027008","article-title":"Myasthenia gravis in children-its familial incidence","volume":"108","author":"Rothbart, H.B.","year":"1937","unstructured":"Rothbart, H. B. (1937). Myasthenia gravis in children-its familial incidence. Journal of the American Mediccl Association, 108, 715.","journal-title":"Journal of the American Mediccl Association"},{"key":"ref_6","article-title":"a similar picture may be encountered in some patients who have a congenital defect of testosterone synthesis (Givens et al., 1974) and in whom adrenal insufficiency may cause severe illness. Serious illness in a child wrongly diagnosed as a case of testicular feminization led to discovery of 17-oc-hydroxylase deficiency","author":"However","unstructured":"However, a similar picture may be encountered in some patients who have a congenital defect of testosterone synthesis (Givens et al., 1974) and in whom adrenal insufficiency may cause severe illness. Serious illness in a child wrongly diagnosed as a case of testicular feminization led to discovery of 17-oc-hydroxylase deficiency."},{"key":"ref_7","article-title":"Pregnanediol and pregnanetriol were estimated in urine by gas-liquid chromatography after enzymatic hydrolysis (Moolenaar and Van Seters, 1971). 11Hydroxycorticosteroids in serum were estimated according to Mattingly (1962), cortisol and corticosterone by a competitive protein-binding technique","volume-title":"Sophia Children's Hospital Rotterdam), and testosterone, progesterone, and follicle stimulating hormone by radioimmunoassay","author":"Degenhart, H.J.","unstructured":"Pregnanediol and pregnanetriol were estimated in urine by gas-liquid chromatography after enzymatic hydrolysis (Moolenaar and Van Seters, 1971). 11Hydroxycorticosteroids in serum were estimated according to Mattingly (1962), cortisol and corticosterone by a competitive protein-binding technique (Dr. H. J. Degenhart, Sophia Children's Hospital Rotterdam), and testosterone, progesterone, and follicle stimulating hormone by radioimmunoassay."},{"key":"ref_8","first-page":"325","article-title":"Male pseudohermaphroditism due to 17-a-hydroxylase deficiency in two siblings","volume":"7","author":"Alvarez, M.N.; Cloutier, M.D.; Hayles, A.B.","year":"1973","unstructured":"Alvarez, M. N., Cloutier, M. D., and Hayles, A. B. (1973). Male pseudohermaphroditism due to 17-a-hydroxylase deficiency in two siblings. Pediatric Research, 7, 325.","journal-title":"Pediatric Research"},{"key":"ref_9","article-title":"17-Hydroxylation deficiency in man","volume":"45","author":"Biglieri, E.G.; Herron, M.E.; Brust, N.","year":"1966","unstructured":"Biglieri, E. G., Herron, M. E., and Brust, N. (1966). 17-Hydroxylation deficiency in man. Journal of Clinical Investigation, 45, 1946.","journal-title":"Journal of Clinical Investigation"},{"key":"ref_10","first-page":"938","article-title":"Familial male pseuzlohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. New England J3ournal of","volume":"291","author":"Givens, J.R.; Wiser, W.L.; Summitt, R.L.; Kerber, I.J.; Andersen, R.N.; Pittaway, D.E.; Fish, S.","year":"1974","unstructured":"Givens, J. R., Wiser, W. L., Summitt, R. L., Kerber, I. J., Andersen, R. N., Pittaway, D. E., and Fish, S. (1974). Familial male pseuzlohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. New England J3ournal of Medi.ine, 291, 938.","journal-title":"Medi.ine"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1056\/NEJM196709282771302","article-title":"Hypogonadism and mineralocorticoid excess","volume":"277","author":"Goldsmith, O.; Solomon, D.H.; Horton, R.","year":"1967","unstructured":"Goldsmith, O., Solomon, D. H., and Horton, R. (1967). Hypogonadism and mineralocorticoid excess. New England Journal of Medicine, 277, 673.","journal-title":"New England Journal of Medicine"},{"key":"ref_12","first-page":"574","article-title":"Deficit en 17-hydroxylase","volume":"32","author":"Linquette, M.; Dupont, A.; Racadot, A.; Lefebvre, J.; May, J.P.; Cappoen, J.P.","year":"1971","unstructured":"Linquette, M., Dupont, A., Racadot, A., Lefebvre, J., May, J. P., and Cappoen, J. P. (1971). Deficit en 17-hydroxylase. Annales d'Endocrinologie, 32, 574.","journal-title":"Annales d'Endocrinologie"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.7326\/0003-4819-70-1-69","article-title":"Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency","volume":"70","author":"Mallin, S.R.","year":"1969","unstructured":"Mallin, S. R. (1969). Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Annals of Internal Medicine, 70, 69.","journal-title":"Annals of Internal Medicine"},{"key":"ref_14","first-page":"38","article-title":"Hypertension arterielle, alcalose hypokaliemique et pseudohermaphrodisme male par deficit en 17 a-hydroxylase","volume":"101","author":"Mantero, F.; Busnardo, B.; Riondel, A.; Veyrat, R.; Austoni, M.","year":"1971","unstructured":"Mantero, F., Busnardo, B., Riondel, A., Veyrat, R., and Austoni, M. (1971). Hypertension arterielle, alcalose hypokaliemique et pseudohermaphrodisme male par deficit en 17 a-hydroxylase. Schweizerische Medizinische Wochenschrift, 101, 38.","journal-title":"Schweizerische Medizinische Wochenschrift"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1136\/jcp.15.4.374","article-title":"A simple fluorimetric method for the estimation of free 1 1-hydroxycorticoids in human plasma. J7ournal of","volume":"15","author":"Mattingly, D.","year":"1962","unstructured":"Mattingly, D. (1962). A simple fluorimetric method for the estimation of free 1 1-hydroxycorticoids in human plasma. J7ournal of Clinical Pathology, 15, 374.","journal-title":"Clinical Pathology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1530\/acta.0.0670303","article-title":"Gaschromatographic determination of steroids in the urine of patients with Cushing's syndrome","volume":"67","author":"Moolenaar, A.J.; van Seters, A.P.","year":"1971","unstructured":"Moolenaar, A. J., and van Seters, A. P. (1971). Gaschromatographic determination of steroids in the urine of patients with Cushing's syndrome. Acta Endocrinologica, 67, 303.","journal-title":"Acta Endocrinologica"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1172\/JCI106412","article-title":"Male pseudohermaphroditism due to 17 a-hydroxylase deficiency","volume":"49","author":"New, M.I.; Suvannakul, L.","year":"1970","unstructured":"New, M. I., and Suvannakul, L. (1970). Male pseudohermaphroditism due to 17 a-hydroxylase deficiency. J'ournal of Clinical Investigation, 49, 1930.","journal-title":"J'ournal of Clinical Investigation"},{"issue":"164","key":"ref_18","first-page":"20","article-title":"The evaluation of testicular endocrine function before and in puberty","volume":"1","author":"Zachmann, M.","year":"1972","unstructured":"Zachmann, M. (1972). The evaluation of testicular endocrine function before and in puberty. Acta Endocrinologica, Supp1. 164, 20.","journal-title":"Acta Endocrinologica"},{"key":"ref_19","article-title":"Acute renal failure and gout as presenting features of acute lymphoblastic leukaemia The 'preleukaemic' syndrome of pancytopenia and hypoplastic bone marrow has been","volume-title":"uric acid nephropathy","author":"Melhorn, Gross; Newman, 1970). Hyperuricaemia (Sinks","year":"1973","unstructured":"Acute renal failure and gout as presenting features of acute lymphoblastic leukaemia The 'preleukaemic' syndrome of pancytopenia and hypoplastic bone marrow has been described (Melhorn, Gross, and Newman, 1970). Hyperuricaemia (Sinks et al., 1966), gout (Whitaker et al., 1963), and uric acid nephropathy (Pochedly, 1973) are recognized complications of treating leukaemia. In our patient all these symptoms preceded the clinical onset of frank leukaemia. 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