768
Brief clinical and &boratorv observations
The patient continues to have flaccid paralysis of the right arm and shoulder musculature. Sensation is intact. Electromyographic studies and clinical evaluation of the patient on three separate occasions spanning three years have all shown findings consistent with a lesion in the brachial plexus. There is sparing of musculature supplied by the posterior division of the anterior spinal nerve roots, the long thoracic nerve coming from the spinal nerve roots, and the dorsal scapular nerve. DISCUSSION This child developed a fever, CNS pleocytosis, and gastroenteritis while recovering from status asthmaticus, and was noted soon after to have flaccid paralysis of the right upper limb. Like other patients in whom this problem had occurred, the patient had completed Sabin oral polio immunization. She resembles the patients reported by Hopkins,' having had a four-day span between onset of wheezing and onset of paralysis, and having had mild pleocytosis and considerable residual paralysis. The patients of Ilett et al 2 had a slightly longer duration from time of onset of wheezing to onset of paralysis, and did not have abnormal CSF findings or constitutional changes, though they also had a permanent motor paralysis. Electrophysiologic data collection has been incompleted in these series. Only two of Hopkins" ten patients were evaluated; they had findings consistent with anterior horn cell or axonal damage. Danta's 3 patient had probable nerve root or brachial plexus damage. One of Ilett et al's-' two patients had an electromyographic evaluation
The Journal of Pediatrics May 1979
and had findings consistent with but not diagnostic of an anterior horn cell lesion. Our patient had clinical evidence of brachial plexus injury, and electromyographic studies have been consistent with a lesion in this area. Various etiologies have been proposed to explain this interesting association of asthma and paralysis. Trauma to the cervical spine has not been apparent in other patients, and was not noted in ours. Infusion sites were benign in appearance. Medications were not unusual, and theophylline levels remained below 20 ~g/ml. A viral etiology would best explain the triggering of asthma, followed by a febrile illness with pleocytosis and gastroenteritis. No pathogen has been isolated. The term "asthmatic amyotrophy" has been given to this association by Danta? This report adds to the literature another example of probable asthmatic amyotrophy. The possible inference of negligence in patients of this type may arise? but no evidence of this has been documented in those reported to date. REFERENCES
1. Hopkins IJ: A new syndrome: poliomyelitis-like illness associated with acute asthma in childhood, Aust Paediatr J 10:273, 1974. 2. llett SJ, Pugh RJ, and Smithells RW: Poliomyelitis-like illness after acute asthma, Arch Dis Child 52:738, 1977. 3. Danta G: Electrophyiological study of amyotrophy associated with acute asthma (asthmatic amyotrophy), J Neurol Neurosurg Psychiatry. 38:1016, 1975. 4. Gellis SS: Poliomyelitis-like illness after acute asthma, Pediatr Notes 1:129, 1977.
Pulmonary cavitation and Pi SZ alphal-antitrypsin
deficiency Seth Rosenfeld, A.B., and Dan M. Granoff, M.D.,* Fresno, Calif.
CAVITARY LESIONS" with air fluid levels occur infrequently in children with pneumonia. Sveger' recently reported this complication in a 2-year-old child with alpha,-antitrypsin deficiency, and suggested a pathogenetic mechanism associating pulmonary cavitation with the underlying protease inhibitor deficiency. Our observation of a similar patient supports the thesis that patients with AAT deficiency may be at increased risk of develFrom the Valley Medical Center and University of California, Fresno-Central San Joaquin Valley Medical Education Program. *Reprint address: Department of Pediatrics, East Carolina University School of Medicine. Greenville. NC 27834.
0022-3476/79/500768 +03500.30/0 9 1979 The C. V. Mosby Co.
oping a pulmonary abscess during infectious injury to the lung. I
Abbreviation used AAT: alpha~-antitrypsin
CASE REPORT
A 6-year-old white boy was referred to Valley Medical Center of Fresno, California, because of a cavitating pulmonary lesion present on chest roentgenogram. He had a two-week history of fever, anorexia, chills, and dry cough. There was no history of aspiration, dental procedures, or lapses of consciousness. The patient had been admitted to other hospitals on nine previous
Volume 94 Number 5
occasions for therapy of acute asthma, sometimes thought to be complicated by infection, His last admission had been eight months earlier, when his chest roentgenogram showed minimal changes compatible with asthma. During the previous 12 months. he had not received therapy with steroids. On physical examination, the patient appeared to be in mild respiratory distress. His temperature was 38.7~ pulse 100 beats/minute, respiration rate 28/minute, and blood pressure 120/60. Pertinent physical findings included decreased transmission of breath sounds on the left side of his chest posteriorly; there were no rales, rhonchi, rubs, wheezes, or prolongation of expiration. The liver was palpable 6 cm below the right costal margin at the midclavicular line. The liver edge was moderately tender but of normal consistency. Laboratory data. The hematocrit was 31%. hemoglobin 10.4 gm/dl, and WBC count 17,400/mmY with 73% polymorphonucleocytes, 3% band forms, 15% lymphocytes, 5% monocytes, and 4% eosinophils. Erythrocyte sedimentation rate (uncorrected) was 58 mm/hour. Sputum was yellowish-green in appearance and on smear showed a predominance of gram-positive diplococci with moderate WBC present. Roentgenographic examination of the chest revealed large areas of consolidation involving the left upper and lingular lobes. Two air-fluid levels were visible within the opacified area (Figure). There was no evidence of pleural disease Hospital course. Because of suspected pneumonia and lung abscess, intravenous administration of aqueous penicillin G sodium (600,000 units every 6 hours), and pulmonary percussion and postural drainage were initiated. The patient was further studied to determine the etiology of the pneumonic process but no definite pathogen was identified. Blood cultures were sterile and sputum cultures grew normal throat flora (no Staphylococcus aureus identified). Smears and cultures of sputum samples for Mycobacteria tuberculosis were negative. Skin tests for tuberculosis (PPD 5 TU) and coccidioidomycosis (spherulin 2.8 p,g) were negative. Complement fixation and precipitin serologic studies for coccidioidal infection were also negative. Countercurrent immunoelectrophoresis of serum, urine, and sputum were negative for Hemophilus influenzae type b and Streptococcuspneumoniae capsular antigens. Anticapsular antibody to 12 common pneumococcal serotypes, measured by radioimmune assay on serum samples obtained on admission and four weeks later, revealed no significant changes in antibody to the serotypes tested (types 1,3,4.6A,7,8,9,12.14,18C,19, and 23). A liver+spleen scan showed the presence of hepatosplenomegaly with no focal defects. Tests of liver function, including gamma GTP, SGPT, LDH, and bilirubin, were within normal limits. Serum immunoglobulin levels were normal (IgG 1,100 mg/dl. IgA 113 mg/dl, and lgM 78 mg/dl). Candida albicans skin test was positive. Serum C3 concentration was normal. Sweat chloride determinations were also normal. After two days of therapy, the patient became afebrile+ He was discharged from the hospital eight days later to continue antimicrobial therapy (penicillin V potassium, 250 mg four times a day) for an additional two weeks, and pulmonary toilet indefinitely. Subsequent course. The patient remained well except for intermittent cough occasionally productive of purulent sputum.
Brie[ clinical and laboratory observations
76 9
Figure. Admission chest roentgenogram showing a large area of consolidation and air fluid levels within the opacification.
Repeat roentgenographic examinations showed gradual resolution of the pulmonary cavities but some areas of atelectasis persisted. Six months after discharge, bronchography and bronchoscopy showed the presence of localized cylindrical bronchiectasis in the left lower lobe. Two and one half years later, the patient is asymptomatic except for infrequent and mild episodes of wheezing. His growth and development are normal. On physical examination, his lungs are clear but he still has evidence of mild hepatomegaly. Liver function tests, arterial blood gas values, and detailed studies of pulmonary function are normal. Serum alpha,-antitrypsin levels measured by radial immunodiffusion on two occasions were 105 and 130 mg/dl, respectively (normal range 200 to 400 mg/dl). Serum trypsin inhibitory capacity was 0.300 units/ml (normal > 0.825 units/ml). His alpha,-antitrypsin Pi phenotype was SZ, his mother's MS, and father's MZ/ DISCUSSION Alpha,-antitrypsin is the major serum protease inhibitor, and is an important control mechanism against endogenous and exogenous enzymes. Thus, alpha,-antitrypsin may serve to inactivate proteases released by dying granulocytes as they marginate along the pulmonary capillary endothelium? There is an association between deficiencies of this protease inhibitor and the development of pulmonary emphysema in adults, a process which in certain individuals may be accelerated by exposure to lung irritants. + A deficiency of A A T theoretically allows uninhibited elastin degradation by the elastases, leading to panacinar emphysema. Most c h i l d r e n with A A T deficiency do not have pulmonary abnormalities,' in part because their lungs may not have yet been subjected to sutficient irritants. In our patient, the increased numbers of granulocytes or alveolar macrophages recruited during infection, with the consequent release of proteases, may have resulted in enhanced tissue destruction and the development of pulmonary cavita-
7 70
Brief clinical and [aboratom observations
lion. It is possible that the occurrence of pulmonary cavitation in this patient, and in the previously reported child with AAT deficiency? is a chance association. However, until further data are available from controlled studies, AAT deficiency should be considered in the differential diagnosis of pneumonic processes complicated by cavitation, especially when more common causes of cavitation are excluded. Gerald Schiffman, Ph.D., Downstate Medical Center, State University of New York, performed the pneumococcal antibody determinations. Jack Leiberman, M.D.. Veteran's Hospital, Sepulveda, California performed the serum trypsin inhibitory capacity and Pi phenotypes.
The Journal of Pediatrics May 1979
REFERENCES
1. Sveger T: alphal-antitrypsin deficiency in early childhood. Pediatrics 62:22, 1978. 2. Lieberman J, and Gaidulis L: Simplified alpha,-antitrypsin phenotyping by immunofixation of acid-starch gels, J Lab Clin Med 87:710, 1976. 3. Talamo RC: Emphysema and alpha,-antitrypsin deficiency, in Kendig EL, editor: Disorders of the respiratory tract in children, Philadelphia, 1977, WB Saunders Company, pp 593-601. 4. Kueppers F, and Black L: Alpha~-antitrypsin and its deficiency, Am Rev Respir Dis 110:176, 1974.
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency James P. Gutai, M.D.,* Pittsburgh, Pa., Peter A. Lee, M.D., Ph.D,, Baltimore, Md, Roger E. Johnsonbaugh, M,D., Ph.D., Bethesda, Md., Frank Gareis, M.D., Oakland, Calif., Maria D. Urban, M.D., and Claude J. Migeon, M.D., Baltimore, Md.
PREVIOUS REPORTS have proposed the use of an intravenous ACTH test with measurement of progesterone and 17-hydroxyprogesterone concentrations in plasma as a means of detecting heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.1-3 The subjects of those studies were parents of children with CAH and were therefore obligate heterozygotes. The object of the present investigation was to apply the same From the Pediatric Endocrine Clinic, Department of Pediatrics, The Johns Hopkins Hospital and University School of Medicine," Department of Pediatrics, Children's Hospital of Pittsburgh; Department of Pediatrics (Endocrine Division), National Naval Medical Center and Uniformed Services University of the Health Sciences; and Department of Pediatrics, Naval Regional Medical Center. Supported by United States Public Health Services Research Grant AM-00180, Traineeship Grant AM-07116 of the National Institutes of Health, Career Award Grant 5-KO6.AM-21855 (CJM) and the Renziehausen Trust (JPG); the patients were studied at the Pediatric Clinical Research Center, supported by Grant 5-MO1-RR-O052 from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health. *Reprint address: Children's Hospital of Pittsburgh, 125 DeSoto St., Pittsburgh, PA 15213.
methods for the detection of heterozygotes among the siblings of patients with CAH. MATERIALS
AND METHODS
As shown in the Table, we studied 30 children from ten families in whom at least one child had CAH. The results in 22 parents of children with CAH, 14 of whom were previously reported, ~ are presented for comparison. Control subjects are those previously reported? Postpubertal female subjects, from each of these groups who were investigated, were studied between day 4 and 10 of their menstrual cycle, except for two who had had a hysterectomy. The ACTH stimulation test and plasma progesterone and 17-OHP assays were performed as previously described?
Abbreviations used 17-OHP: 17-hydroxyprogesterone CAH: congenital adrenal hyperplasia
In a previous study of parents of patients with CAH, ~ it was found that the steroid response at 30 minutes after intravenous ACTH administration was the best means of discriminating the heterozygous state. Therefore, the plasma progesterone and 17-OHP concentrations were deter-
0022-3476/79/500770+03500.30/0 9 1979 The C. V. Mosby Co.
Brief clinical and &boratorv observations
The patient continues to have flaccid paralysis of the right arm and shoulder musculature. Sensation is intact. Electromyographic studies and clinical evaluation of the patient on three separate occasions spanning three years have all shown findings consistent with a lesion in the brachial plexus. There is sparing of musculature supplied by the posterior division of the anterior spinal nerve roots, the long thoracic nerve coming from the spinal nerve roots, and the dorsal scapular nerve. DISCUSSION This child developed a fever, CNS pleocytosis, and gastroenteritis while recovering from status asthmaticus, and was noted soon after to have flaccid paralysis of the right upper limb. Like other patients in whom this problem had occurred, the patient had completed Sabin oral polio immunization. She resembles the patients reported by Hopkins,' having had a four-day span between onset of wheezing and onset of paralysis, and having had mild pleocytosis and considerable residual paralysis. The patients of Ilett et al 2 had a slightly longer duration from time of onset of wheezing to onset of paralysis, and did not have abnormal CSF findings or constitutional changes, though they also had a permanent motor paralysis. Electrophysiologic data collection has been incompleted in these series. Only two of Hopkins" ten patients were evaluated; they had findings consistent with anterior horn cell or axonal damage. Danta's 3 patient had probable nerve root or brachial plexus damage. One of Ilett et al's-' two patients had an electromyographic evaluation
The Journal of Pediatrics May 1979
and had findings consistent with but not diagnostic of an anterior horn cell lesion. Our patient had clinical evidence of brachial plexus injury, and electromyographic studies have been consistent with a lesion in this area. Various etiologies have been proposed to explain this interesting association of asthma and paralysis. Trauma to the cervical spine has not been apparent in other patients, and was not noted in ours. Infusion sites were benign in appearance. Medications were not unusual, and theophylline levels remained below 20 ~g/ml. A viral etiology would best explain the triggering of asthma, followed by a febrile illness with pleocytosis and gastroenteritis. No pathogen has been isolated. The term "asthmatic amyotrophy" has been given to this association by Danta? This report adds to the literature another example of probable asthmatic amyotrophy. The possible inference of negligence in patients of this type may arise? but no evidence of this has been documented in those reported to date. REFERENCES
1. Hopkins IJ: A new syndrome: poliomyelitis-like illness associated with acute asthma in childhood, Aust Paediatr J 10:273, 1974. 2. llett SJ, Pugh RJ, and Smithells RW: Poliomyelitis-like illness after acute asthma, Arch Dis Child 52:738, 1977. 3. Danta G: Electrophyiological study of amyotrophy associated with acute asthma (asthmatic amyotrophy), J Neurol Neurosurg Psychiatry. 38:1016, 1975. 4. Gellis SS: Poliomyelitis-like illness after acute asthma, Pediatr Notes 1:129, 1977.
Pulmonary cavitation and Pi SZ alphal-antitrypsin
deficiency Seth Rosenfeld, A.B., and Dan M. Granoff, M.D.,* Fresno, Calif.
CAVITARY LESIONS" with air fluid levels occur infrequently in children with pneumonia. Sveger' recently reported this complication in a 2-year-old child with alpha,-antitrypsin deficiency, and suggested a pathogenetic mechanism associating pulmonary cavitation with the underlying protease inhibitor deficiency. Our observation of a similar patient supports the thesis that patients with AAT deficiency may be at increased risk of develFrom the Valley Medical Center and University of California, Fresno-Central San Joaquin Valley Medical Education Program. *Reprint address: Department of Pediatrics, East Carolina University School of Medicine. Greenville. NC 27834.
0022-3476/79/500768 +03500.30/0 9 1979 The C. V. Mosby Co.
oping a pulmonary abscess during infectious injury to the lung. I
Abbreviation used AAT: alpha~-antitrypsin
CASE REPORT
A 6-year-old white boy was referred to Valley Medical Center of Fresno, California, because of a cavitating pulmonary lesion present on chest roentgenogram. He had a two-week history of fever, anorexia, chills, and dry cough. There was no history of aspiration, dental procedures, or lapses of consciousness. The patient had been admitted to other hospitals on nine previous
Volume 94 Number 5
occasions for therapy of acute asthma, sometimes thought to be complicated by infection, His last admission had been eight months earlier, when his chest roentgenogram showed minimal changes compatible with asthma. During the previous 12 months. he had not received therapy with steroids. On physical examination, the patient appeared to be in mild respiratory distress. His temperature was 38.7~ pulse 100 beats/minute, respiration rate 28/minute, and blood pressure 120/60. Pertinent physical findings included decreased transmission of breath sounds on the left side of his chest posteriorly; there were no rales, rhonchi, rubs, wheezes, or prolongation of expiration. The liver was palpable 6 cm below the right costal margin at the midclavicular line. The liver edge was moderately tender but of normal consistency. Laboratory data. The hematocrit was 31%. hemoglobin 10.4 gm/dl, and WBC count 17,400/mmY with 73% polymorphonucleocytes, 3% band forms, 15% lymphocytes, 5% monocytes, and 4% eosinophils. Erythrocyte sedimentation rate (uncorrected) was 58 mm/hour. Sputum was yellowish-green in appearance and on smear showed a predominance of gram-positive diplococci with moderate WBC present. Roentgenographic examination of the chest revealed large areas of consolidation involving the left upper and lingular lobes. Two air-fluid levels were visible within the opacified area (Figure). There was no evidence of pleural disease Hospital course. Because of suspected pneumonia and lung abscess, intravenous administration of aqueous penicillin G sodium (600,000 units every 6 hours), and pulmonary percussion and postural drainage were initiated. The patient was further studied to determine the etiology of the pneumonic process but no definite pathogen was identified. Blood cultures were sterile and sputum cultures grew normal throat flora (no Staphylococcus aureus identified). Smears and cultures of sputum samples for Mycobacteria tuberculosis were negative. Skin tests for tuberculosis (PPD 5 TU) and coccidioidomycosis (spherulin 2.8 p,g) were negative. Complement fixation and precipitin serologic studies for coccidioidal infection were also negative. Countercurrent immunoelectrophoresis of serum, urine, and sputum were negative for Hemophilus influenzae type b and Streptococcuspneumoniae capsular antigens. Anticapsular antibody to 12 common pneumococcal serotypes, measured by radioimmune assay on serum samples obtained on admission and four weeks later, revealed no significant changes in antibody to the serotypes tested (types 1,3,4.6A,7,8,9,12.14,18C,19, and 23). A liver+spleen scan showed the presence of hepatosplenomegaly with no focal defects. Tests of liver function, including gamma GTP, SGPT, LDH, and bilirubin, were within normal limits. Serum immunoglobulin levels were normal (IgG 1,100 mg/dl. IgA 113 mg/dl, and lgM 78 mg/dl). Candida albicans skin test was positive. Serum C3 concentration was normal. Sweat chloride determinations were also normal. After two days of therapy, the patient became afebrile+ He was discharged from the hospital eight days later to continue antimicrobial therapy (penicillin V potassium, 250 mg four times a day) for an additional two weeks, and pulmonary toilet indefinitely. Subsequent course. The patient remained well except for intermittent cough occasionally productive of purulent sputum.
Brie[ clinical and laboratory observations
76 9
Figure. Admission chest roentgenogram showing a large area of consolidation and air fluid levels within the opacification.
Repeat roentgenographic examinations showed gradual resolution of the pulmonary cavities but some areas of atelectasis persisted. Six months after discharge, bronchography and bronchoscopy showed the presence of localized cylindrical bronchiectasis in the left lower lobe. Two and one half years later, the patient is asymptomatic except for infrequent and mild episodes of wheezing. His growth and development are normal. On physical examination, his lungs are clear but he still has evidence of mild hepatomegaly. Liver function tests, arterial blood gas values, and detailed studies of pulmonary function are normal. Serum alpha,-antitrypsin levels measured by radial immunodiffusion on two occasions were 105 and 130 mg/dl, respectively (normal range 200 to 400 mg/dl). Serum trypsin inhibitory capacity was 0.300 units/ml (normal > 0.825 units/ml). His alpha,-antitrypsin Pi phenotype was SZ, his mother's MS, and father's MZ/ DISCUSSION Alpha,-antitrypsin is the major serum protease inhibitor, and is an important control mechanism against endogenous and exogenous enzymes. Thus, alpha,-antitrypsin may serve to inactivate proteases released by dying granulocytes as they marginate along the pulmonary capillary endothelium? There is an association between deficiencies of this protease inhibitor and the development of pulmonary emphysema in adults, a process which in certain individuals may be accelerated by exposure to lung irritants. + A deficiency of A A T theoretically allows uninhibited elastin degradation by the elastases, leading to panacinar emphysema. Most c h i l d r e n with A A T deficiency do not have pulmonary abnormalities,' in part because their lungs may not have yet been subjected to sutficient irritants. In our patient, the increased numbers of granulocytes or alveolar macrophages recruited during infection, with the consequent release of proteases, may have resulted in enhanced tissue destruction and the development of pulmonary cavita-
7 70
Brief clinical and [aboratom observations
lion. It is possible that the occurrence of pulmonary cavitation in this patient, and in the previously reported child with AAT deficiency? is a chance association. However, until further data are available from controlled studies, AAT deficiency should be considered in the differential diagnosis of pneumonic processes complicated by cavitation, especially when more common causes of cavitation are excluded. Gerald Schiffman, Ph.D., Downstate Medical Center, State University of New York, performed the pneumococcal antibody determinations. Jack Leiberman, M.D.. Veteran's Hospital, Sepulveda, California performed the serum trypsin inhibitory capacity and Pi phenotypes.
The Journal of Pediatrics May 1979
REFERENCES
1. Sveger T: alphal-antitrypsin deficiency in early childhood. Pediatrics 62:22, 1978. 2. Lieberman J, and Gaidulis L: Simplified alpha,-antitrypsin phenotyping by immunofixation of acid-starch gels, J Lab Clin Med 87:710, 1976. 3. Talamo RC: Emphysema and alpha,-antitrypsin deficiency, in Kendig EL, editor: Disorders of the respiratory tract in children, Philadelphia, 1977, WB Saunders Company, pp 593-601. 4. Kueppers F, and Black L: Alpha~-antitrypsin and its deficiency, Am Rev Respir Dis 110:176, 1974.
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency James P. Gutai, M.D.,* Pittsburgh, Pa., Peter A. Lee, M.D., Ph.D,, Baltimore, Md, Roger E. Johnsonbaugh, M,D., Ph.D., Bethesda, Md., Frank Gareis, M.D., Oakland, Calif., Maria D. Urban, M.D., and Claude J. Migeon, M.D., Baltimore, Md.
PREVIOUS REPORTS have proposed the use of an intravenous ACTH test with measurement of progesterone and 17-hydroxyprogesterone concentrations in plasma as a means of detecting heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.1-3 The subjects of those studies were parents of children with CAH and were therefore obligate heterozygotes. The object of the present investigation was to apply the same From the Pediatric Endocrine Clinic, Department of Pediatrics, The Johns Hopkins Hospital and University School of Medicine," Department of Pediatrics, Children's Hospital of Pittsburgh; Department of Pediatrics (Endocrine Division), National Naval Medical Center and Uniformed Services University of the Health Sciences; and Department of Pediatrics, Naval Regional Medical Center. Supported by United States Public Health Services Research Grant AM-00180, Traineeship Grant AM-07116 of the National Institutes of Health, Career Award Grant 5-KO6.AM-21855 (CJM) and the Renziehausen Trust (JPG); the patients were studied at the Pediatric Clinical Research Center, supported by Grant 5-MO1-RR-O052 from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health. *Reprint address: Children's Hospital of Pittsburgh, 125 DeSoto St., Pittsburgh, PA 15213.
methods for the detection of heterozygotes among the siblings of patients with CAH. MATERIALS
AND METHODS
As shown in the Table, we studied 30 children from ten families in whom at least one child had CAH. The results in 22 parents of children with CAH, 14 of whom were previously reported, ~ are presented for comparison. Control subjects are those previously reported? Postpubertal female subjects, from each of these groups who were investigated, were studied between day 4 and 10 of their menstrual cycle, except for two who had had a hysterectomy. The ACTH stimulation test and plasma progesterone and 17-OHP assays were performed as previously described?
Abbreviations used 17-OHP: 17-hydroxyprogesterone CAH: congenital adrenal hyperplasia
In a previous study of parents of patients with CAH, ~ it was found that the steroid response at 30 minutes after intravenous ACTH administration was the best means of discriminating the heterozygous state. Therefore, the plasma progesterone and 17-OHP concentrations were deter-
0022-3476/79/500770+03500.30/0 9 1979 The C. V. Mosby Co.
