2.Case report of an adult female with neglected Congenital Adrenal hyperplasia (CAh)
Gayathri Devi Krishnan ; Norhayati Yahaya
Journal of the ASEAN Federation of Endocrine Societies 2018;33(2):199-201
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
3.A Boy with Adrenocortical Tumor Who Progressed to Central Precocious Puberty after Surgery.
Hee Won CHUEH ; Nu Ri BAK ; Myo Jing KIM ; Jae Ho YOO ; Mi Sook RHO ; Won Yeol CHO
Annals of Pediatric Endocrinology & Metabolism 2012;17(1):57-61
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
4.Pseudohypoaldosteronism in a premature neonate with severe polyhydramnios in utero.
So Yoon AHN ; Son Moon SHIN ; Kyung Ah KIM ; Yeon Kyung LEE ; Sun Young KO
Korean Journal of Pediatrics 2009;52(3):376-379
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
5.Progesterone treatment for the prevention of preterm birth.
Journal of the Korean Medical Association 2016;59(4):319-325
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
6.Changes in High Levels of 17 alpha-Hydroxyprogesterone at Neonatal Screening.
Eun Young PARK ; Jin Hyung CHO ; Su Jin LEE ; Seung YANG ; Kwang Nam KIM ; Jeh Hoon SHIN ; Phil Soo OH
Journal of Korean Society of Pediatric Endocrinology 2003;8(2):156-161
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*
7.Changes in High Levels of 17 alpha-Hydroxyprogesterone at Neonatal Screening.
Eun Young PARK ; Jin Hyung CHO ; Su Jin LEE ; Seung YANG ; Kwang Nam KIM ; Jeh Hoon SHIN ; Phil Soo OH
Journal of Korean Society of Pediatric Endocrinology 2003;8(2):156-161
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*
8.Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia.
Xiao-Mei LIN ; Ben-Qing WU ; Jin-Jie HUANG ; Bo LI ; Yi FAN ; Lin-Hua LIN ; Qiu-Xuan YAO ; Wen-Yuan WU ; Lian YU
Chinese Journal of Contemporary Pediatrics 2013;15(11):942-947
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
9.An Analysis of Two-Year Experience in Neonatal Screening.
In Suk KIM ; Soo Youn LEE ; Jong Won KIM
The Korean Journal of Laboratory Medicine 2004;24(5):290-296
BACKGROUND: This study was undertaken to evaluate whether the currently used cut-offs are appropriate and whether there is a significant relationship between false positive results and post-natal well being in neonatal screening. METHODS: During the period of January 2001 through December 2002 at Samsung Medical Cen-ter, neonatal screening tests for TSH, free thyroxine (FT4), phenylketonuria (PKU), galactosemia and 17-hydroxyprogesterone (17-OHP) were performed in newborns using commercial ELISA kits. We reviewed the recall rates at currently used cut-offs and analyzed the relationship between false positive results and postnatal well-being. RESULTS: We obtained false positive results of 2.42%, 0.86%, 1.5%, 0.95% and 0.97% for TSH, FT4, PKU, galactosemia, and 17-OHP, respectively. Twelve babies out of 5, 918 was diagnosed with hypothyroidism. The false positive results of 17-OHP and FT4 were mostly seen in premature babies. Simultaneous false positive results of 17-OHP and other neonatal screen such as FT4 or galactosemia showed poor prognostic outcome in premature babies (odds ratio 6.08, P=0.0006). CONCLUSIONS: In galactosemia, PKU, and 17-OHP, it would be reasonable to modify the cut-offs to 99.7 percentile after measuring those substances from enough number of healthy neonates. The babies who have been treated with L-thyroxine by the current cut-offs of TSH or FT4 were relatively large in number, thus, prospective follow-up of evaluation of the cut-offs of TSH or FT4 is necessary. Also, a simultaneous positivity of 17-OHP and FT4 or galactosemia could be considered as a poor prognostic factor in postnatal well-being.
17-alpha-Hydroxyprogesterone
;
Congenital Hypothyroidism
;
Enzyme-Linked Immunosorbent Assay
;
Follow-Up Studies
;
Galactosemias
;
Humans
;
Hypothyroidism
;
Infant, Newborn
;
Neonatal Screening*
;
Phenylketonurias
;
Prospective Studies
;
Thyroxine
10.Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots.
Kye Shik SHIM ; Jin Soon HWANG ; Jung Sub LIM ; Se Young KIM ; Choong Ho SHIN ; Sei Won YANG ; Jung Hwan CHOI ; Chong Ku YUN ; Jung Han SONG
Journal of the Korean Pediatric Society 1999;42(12):1639-1644
PURPOSE: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut-off values to minimize the false positive rates. METHODS: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company. RESULTS: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. CONCLUSION: The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.
17-alpha-Hydroxyprogesterone
;
Adrenal Hyperplasia, Congenital
;
Amino Acids, Branched-Chain
;
Capillaries
;
Cesarean Section
;
Female
;
Galactose
;
Galactosemias
;
Humans
;
Immunoenzyme Techniques
;
Infant, Newborn
;
Metabolism, Inborn Errors*
;
Neonatal Screening*
;
Phenylalanine
;
Pregnancy