No abstract available.
17-alpha-Hydroxyprogesterone*

An apparently well 27-year-old phenotypically male adult was seen at the endocrine clinic for gender assignment. Patient had been raised as a male and identifies as such. Abdominal CT scan showed a unilateral left adrenal mass and karyotyping revealed 46 XX female karyotype. She was diagnosed to have simple virilizing CAH and needed thorough counselling with subsequent management by a multidisciplinary team
17-alpha-Hydroxyprogesterone

Adrenocortical tumors in children are rare and show various clinical symptoms. We present an 8-year-old boy with peripheral precocious puberty caused by adrenocortical tumor. He showed elevated serum DHEA-S and 17-hydroxyprogesterone, and computed tomography revealed an abdominal mass. After surgical resection, he developed central precocious puberty. We report a rare case that showed progression from peripheral precocious puberty to central precocious puberty.
17-alpha-Hydroxyprogesterone ; Adrenal Cortex Neoplasms ; Child ; Humans ; Puberty, Precocious

We report a case of a premature newborn baby who presented with hyponatremia, hyperkalemia, and metabolic acidosis accompanied by severe polyhydramnios in utero. The baby was diagnosed with pseudohypoaldosteronism on the basis of normal 17-hydroxyprogesterone levels, elevated aldosterone, and clinical symptoms. His serum electrolyte levels were corrected with sodium chloride supplementation. Sodium supplementation was reduced gradually and discontinued at 5 months of age. At 5 months, the child was able to maintain normal serum electrolyte levels without oral sodium chloride supplementation, and showed normal physical and neurological development. This case illustrates that pseudohypoaldosteronism must be considered if a newborn infant with an antenatal history of severe polyhydramnios shows excessive salt loss with normal levels of 17-hydroxyprogesterone.
17-alpha-Hydroxyprogesterone ; Acidosis ; Aldosterone ; Child ; Humans ; Hyperkalemia ; Hyponatremia ; Infant, Newborn ; Polyhydramnios ; Pseudohypoaldosteronism ; Sodium ; Sodium Chloride

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.
17-alpha-Hydroxyprogesterone* ; Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Follow-Up Studies ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Mass Screening ; Neonatal Screening*

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.
17-alpha-Hydroxyprogesterone* ; Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Follow-Up Studies ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Mass Screening ; Neonatal Screening*

Preterm birth (PTB) is defined as birth before 37 completed weeks of gestation, which occurs in approximately 10% of all pregnancies. Prior PTB history and short cervical length (CL) are the most significant predictors of PTB. Prior PTB history can increase the risk of recurrence of PTB more than two-fold in the next pregnancy. A short CL of less than 25 mm as measured by ultrasound between 16 and 24 weeks of gestation has been shown to be the most reliable predictor of an increased risk of PTB. Progesterone is one of the few proven effective methods of preventing PTB in women with a previous history of spontaneous PTB and women with a short CL. Progestins are available in natural micronized or synthetic formulations for intramuscular or vaginal (tablet or gel) administration. Several studies have reported that 17 hydroxyprogesterone caproate injection can prevent recurrent PTB in women with a previous history of PTB. Vaginal micronized natural progesterone has also been shown to be effective in preventing PTB in women with previous PTB history or with a short CL. At present, we are performing a multi-center, randomized trial in Korea (a multicenter, randomized, open-label, investigator-initiated trial of vaginal compared with intramuscular progesterone for the prevention of PTB in high-risk pregnant women: VICTORIA protocol) to compare the efficacy between vaginal progesterone and intramuscular injection of progesterone in women with a previous preterm history or short CL. This study will provide important information to both obstetricians and patients on whether a vaginal or intramuscular regimen is better for prevention of a recurrent PTB.
17-alpha-Hydroxyprogesterone ; Female ; Humans ; Injections, Intramuscular ; Korea ; Parturition ; Pregnancy ; Pregnant Women ; Premature Birth* ; Progesterone* ; Progestins ; Recurrence ; Ultrasonography ; Victoria

CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence difference between CYP2lA2 gene and its pseudogene; the whole CYP2lA2 gene was amplified with PrimeSTAR DNA polymerase (Takara), and the amplification product was directly sequenced to detect and analyze CYP2lA2 gene mutation. The child was clinically diagnosed with CAH (21-hydroxylase deficiency, 21-OHD) at the age of 36 days, and the case was confirmed by genetic diagnosis at the age of 1.5 years. The proband had a homozygous mutation at c.293-13C in the second intron of CYP21 gene, while the parents had heterozygous mutations. Early diagnosis and standard treatment of CAH (21-OHD) should be performed to prevent salt-wasting crisis and reduce mortality; bone aging should be avoided to increase final adult height (FAH), and reproductive dysfunction due to oligospermia in adulthood should be avoided. These factors are helpful for improving prognosis and increasing FAH. Investigating the molecular genetic mechanism of CAH can improve recognition and optimize diagnosis of this disease. In addition, carrier diagnosis and genetic counseling for the proband family are of great significance.
17-alpha-Hydroxyprogesterone ; blood ; Adrenal Hyperplasia, Congenital ; blood ; genetics ; Humans ; Infant ; Male ; Mutation ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo investigate the incidence of congenital adrenal hyperplasia (CAH) in Shanghai areas by a neonatal screening program.

METHODSHeel prick blood samples were collected from 50 600 newborns in 50 maternal and child health care hospitals and maternity hospitals 72 hours after their birth and adsorbed onto standard filter paper for determining 17-hydroxyprogesterone (17-OHP) by enzyme linked-immunosorbent assay (ELISA).

RESULTSLevel of 17-OHP was significantly increased in eight cases of the 50 600 newborns, three cases of whom with established CAH with hyponatremia, hyperkalemia and hypertestosteronemia duo to 21-hydroxylase deficiency, and other five cases with high level 17-OHP due to preterm delivery.

CONCLUSIONSDetermining 17-OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates. The incidence of CAH in Shanghai areas was 5.93 per 100 000 newborns (3/50 600).

17-alpha-Hydroxyprogesterone ; blood ; Adrenal Hyperplasia, Congenital ; blood ; diagnosis ; epidemiology ; China ; epidemiology ; Enzyme-Linked Immunosorbent Assay ; methods ; Female ; Humans ; Incidence ; Infant, Newborn ; Male ; Neonatal Screening ; methods

BACKGROUND: False positive rate of 17-OHP screening test was higher more than other screening tests due to use same cutoff value both term and preterm infants in Korea. The purpose of this study is to set cutoff value of 17-OHP on the basis of birth weight in neonatal screening for congenital adrenal hyperplasia. METHODS: 17-OHP was measured in filter paper blood spots obtained by heel puncture between 3 and 7 days after birth. 17-OHP values were analyzed with respect to birth weight in order to decide the appropriate cutoff values in a neonatal screening for congenital adrenal hyperplasia. RESULTS: The mean concentrations of 17-OHP according to birth weight groups were as follows : 12.6, 7.0, 5.1, 3.7, 3.0, 2.5 ng/mL for birth weight of 1.50 or less, 1.50-1.99, 2.00-2.49, 2.50-2.99, 3.00-3.49, 3.50 kg or more, respectively. The cutoff values for determining the 17-OHP for recall were decided as follows : 55, 35, 18, 11, 8, 8 ng/mL for birth weight of 1.50 or less, 1.50-1.99, 2.00-2.49, 2.50-2.99, 3.00-3.49, 3.50 kg or more, respectively. Application of the new cutoff values according to birth weight dropped the total recall rate from 3.3% to 1.0%. CONCLUSIONS: The cutoff values of 17-OHP on the basis of birth weight should be used in the neonatal screening for congenital adrenal hyperplasia. We believe that the recall rate due to false positive can be reduced using this method in low birth weight infants.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital ; Birth Weight ; Heel ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Korea ; Mass Screening ; Neonatal Screening ; Parturition ; Punctures