Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.

Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.

Etiologies and characteristics of children with chief complaint of short stature

PURPOSE: Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature. METHODS: We retrospectively reviewed the medical records of 3,371 patients who visited Severance Children's Hospital with the chief complaint of short stature from 2010 to 2012. Medical history, auxological data, and laboratory tests including bone age were collected and analyzed. Chromosome studies or combined pituitary function tests were performed if needed. RESULTS: Approximately 89.4% of the subjects with the chief complaint of short stature who visited the outpatient clinic were of normal height, and only 10.6% of subjects were identified as having short stature. Of the subject of short stature, 44.7% were classified as having normal variant short stature; that is, familial short stature (23.0%), constitutional delay in growth (17.7%), and mixed form (3.9%). Pathological short stature was found in 193 subjects (54.2%). Among pathological short stature, most common etiology was growth hormone deficiency (GHD) (38.9%). CONCLUSION: A majority of children had a normal height. Among children with short stature, pathological short stature and normal variants occupied a similar percentage. GHD was the most common cause of pathological short stature and found in about 20% of the children with short stature. In pathological short stature, the height, height velocity, and IGF-1 level were lower than in normal variants.

Comparison between Glidescope and Lightwand for tracheal intubation in patients with a simulated difficult airway / 대한마취과학회지

BACKGROUND: Although Lightwand and Glidescope have both shown high success rates for intubation, there has been no confirmation as to which device is most effective for difficult endotracheal intubation. We compared the Glidescope and Lightwand devices in terms of duration of intubation and success rate at the first attempt in a simulated difficult airway situation. METHODS: Fifty-eight patients were randomized to undergo tracheal intubation with either the Glidescope (Glidescope group, n = 29) or the Lightwand (Lightwand group, n = 29). All patients were fitted with a semi-hard cervical collar in order to simulate a difficult airway, and intubation was attempted with the assigned airway device. The data collected included the rate of successful endotracheal intubation, the number of attempts required, the duration of the intubation, as well as the interincisor distance, hemodynamic variables, and adverse effects. RESULTS: There was no difference between Glidescope group (92.6%) and Lightwand group (96.4%) in terms of success rate for the first attempt at intubation. The duration of successful intubation for the first tracheal intubation attempt was significantly longer in Glidescope group than in Lightwand group (46.9 sec vs 29.5 sec, P = 0.001). All intubations were completed successfully within two intubation attempts. The incidence of hypertension was significantly higher in Glidescope group than in Lightwand group (51.9% vs 17.9%, P = 0.008). CONCLUSIONS: In a simulated difficult airway situation, endotracheal intubation using Lightwand yielded a shorter duration of intubation and lower incidence of hypertension than when using Glidescope.

A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism, with recurrent muscle paralysis and hypokalemia that are caused by an intracellular shift of potassium. TPP is relatively common in Asian males, but is extremely rare in children and adolescents, even for those of Asian descent. We describe a 16-year-old Korean adolescent presenting with a two-week history of episodic leg weakness in the morning. He showed sinus tachycardia, lower leg weakness, and hypokalemia. Thyroid function test showed hyperthyroidism, and thyroid ultrasonography revealed a diffuse enlarged thyroid with increased vascularity, consistent with Graves' disease. He was treated with beta-adrenergic blocker and antithyroid drugs. He has been symptom free for one year, as his hyperthyroidism has been controlled well with antithyroid drugs. TPP should be considered in children and adolescents with acute paralysis of the lower extremities and hypokalemia.

Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone agonist with or without growth hormone

PURPOSE: There is controversy surrounding the growth outcomes of treatment with gonadotropin-releasing hormone agonist (GnRHa) in central precocious puberty (CPP). We analyzed height preservation after treatment with GnRHa with and without growth hormone (GH) in girls with CPP. METHODS: We reviewed the medical records of 82 girls with idiopathic CPP who had been treated with GnRHa at Severance Children's Hospital from 2004 to 2014. We assessed the changes in height standard deviation score (SDS) for bone age (BA), and compared adult height (AH) with midparental height (MPH) and predicted adult height (PAH) during treatment in groups received GnRHa alone (n=59) or GnRHa plus GH (n=23). RESULTS: In the GnRHa alone group, the height SDS for BA was increased during treatment. AH (160.4+/-4.23 cm) was significantly higher than the initial PAH (156.6+/-3.96 cm) (P<0.001), and it was similar to the MPH (159.9+/-3.52 cm). In the GnRHa plus GH group, the height SDS for BA was also increased during treatment. AH (159.3+/-5.33 cm) was also higher than the initial PAH (154.6+/-2.55 cm) (P<0.001), which was similar to the MPH (158.1+/-3.31 cm). Height gain was slightly higher than that in the GnRHa alone group, however it statistically showed no significant correlation with GH treatment. CONCLUSION: In CPP girls treated with GnRHa, the height SDS for BA was increased, and the AH was higher than the initial PAH. Combined GH treatment showed a limited increase in height gain.

Allele distribution of FMR1 gene in Korean women / 대한산부인과학회잡지

OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.

The association between unexplained elevation of second trimester maternal serum beta-hCG and pregnancy outcomes / 대한산부인과학회잡지

OBJECTIVE: The purpose of this study was to determine whether unexplained elevation of second-trimester maternal serum beta-human chorionic gonadotropin (beta-hCG) is associated with adverse pregnancy outcomes. METHOD: Between January 1998 and December 1999, we evaluated 2112 pregnant women undergoing second trimester triple marker screening test who delivered at our hospital. Inclusion criteria were singleton pregnancy, confirmed gestational age, and hCG level greater than 2.0 MoM. The exclusion criteria were fetal anomaly, abnormal karyotype, MSAFP level greater than 2.0 MoM, uE3 level less than 0.4 MoM, and referred patients with pregnancy-induced hypertension (PIH). A group of randomly selected women with normal maternal serum hCG and AFP levels served as control. RESULTS: Women with unexplained elevation of hCG level showed increased risks for PIH (p<0.001) and preterm delivery (p<0.003). There were no significant diffrences between study and control groups with respect to placental abruption, fetal distress, PROM, intrauterine fetal death, and apgar score. CONCLUSION: Pregnancies with unexplained elevation of hCG levels should be regarded as high-risk pregnancies and managed accordingly. The combination with these biomarkers such as VEGF, plasminogen activating factor I and AT-III as a screening test for PIH may be useful.

A Study about the Defectiveness of Maternal Serum Triple Marker Test for Down Syndrome / 대한주산의학회잡지

No abstract available.

Clinical experiences of 7 cases of primary carcinoma of the fallopian tube / 대한산부인과학회잡지

OBJECTIVE: The aim of this study was to evaluate the clinical experiences of patients with the primary tubal cancer diagnosed and treated in the Department of Obstetrics and Gynecology, Gacheon Medical School from January 1996 to December 2000. METHODS: Age, symptoms, Pap smear, CA-125, preoperative diagnosis, mode of surgery, stage, additional pathologic finding, mode of adjuvant therapy and survival periods of patients were reviewed retrospectively. RESULTS: The mean age of patients was 57.4 years. The symptoms were vaginal spotting, leukorrhea and pelvic mass. Three patients were treated by simple hysterectomy and both salpingoophorectomy. Staging laparotomy was done in 4 patients. Three patients were in stage I, 2 patients were in stage II and 2 patients were in stage III. Endometrial adenocarcinoma was present in 1 patient and endometrial hyperplasia was present in 1 patient. The mean follow-up period of five patients were 25.4 months and 2 patients were lost for follow-up. Conclusions: The primary tubal cancer was rare gynecologic malignancy and the preoperative diagnosis was difficult due to non-specific symptoms and signs. Staging laparotomy and adjuvant chemotherapy should be done like in ovarian cancer. More studies may be needed for the associated endometiral diseases.