• Clinical and Experimental Pediatrics
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• v.58 no.6
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• pp.234-237
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• 2015

Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St. Mary's Hospital for abdominal pain and distension. Physical examination revealed hepatomegaly and a Cushingoid face. The growth rate of the patient had decreased, and she had not yet experienced menarche. Laboratory findings revealed elevated liver enzyme levels. A liver biopsy confirmed hepatic glycogenosis. Continuous glucose monitoring showed hyperglycemia after meals and frequent hypoglycemia before meals. To control hyperglycemia, we increased insulin dosage by using an insulin pump. In addition, we prescribed uncooked cornstarch to prevent hypoglycemia. After strict blood glucose control, the patient's liver functions and size normalized. The patient subsequently underwent menarche. Hepatic glycogenosis is a complication of type 1 DM that is reversible with appropriate glycemic control.

• Clinical and Experimental Pediatrics
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• v.63 no.11
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• pp.415-421
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• 2020

Cryptorchidism or undescended testis is the single most common genitourinary disease in male neonates. In most cases, the testes will descend spontaneously by 3 months of age. If the testes do not descend by 6 months of age, the probability of spontaneous descent thereafter is low. About 1%-2% of boys older than 6 months have undescended testes after their early postnatal descent. In some cases, a testis vanishes in the abdomen or reascends after birth which was present in the scrotum at birth. An inguinal undescended testis is sometimes mistaken for an inguinal hernia. A surgical specialist referral is recommended if descent does not occur by 6 months, undescended testis is newly diagnosed after 6 months of age, or testicular torsion is suspected. International guidelines do not recommend ultrasonography or other diagnostic imaging because they cannot add diagnostic accuracy or change treatment. Routine hormonal therapy is not recommended for undescended testis due to a lack of evidence. Orchiopexy is recommended between 6 and 18 months at the latest to protect the fertility potential and decrease the risk of malignant changes. Patients with unilateral undescended testis have an infertility rate of up to 10%. This rate is even higher in patients with bilateral undescended testes, with intra-abdominal undescended testis, or who underwent delayed orchiopexy. Patients with undescended testis have a threefold increased risk of testicular cancer later in life compared to the general population. Self-examination after puberty is recommended to facilitate early cancer detection. A timely referral to a surgical specialist and timely surgical correction are the most important factors for decreasing infertility and testicular cancer rates.

• Development and Reproduction
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• v.10 no.4
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• pp.255-261
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• 2006

Although some phytoes rogens might have beneficiary rather than adverse effects, most endocrine disrupting compounds(EDCs) are considered to be harmful to human and wildlife health through interfering the endocrine system. Previously we found that prepubertal exposure to genistein(GS), a well-known isoflavone phytoestrogen, could activate the reproductive system of immature female rats resulting precocious puberty. Interestingly, di(2-ethyl hexyl) phthalate(DEHP) exposure brought inverse result, a delayed puberty, in the same experimental regimen. In this study, we examined whether prepubertal exposure to GS or DEHP affect the gene expressions of estrogen receptors($ER\;{\alpha}$ and $ER\;{\beta}$) and LH receptor(LHR) which represent the maturational status of ovary and uterus in immature rats. GS (100 mg/kg/day) was administered daily from postnatal day 25 to the day when the first vaginal opening(VO) was observed, and the animals were sacrificed on the next day(day 32). Similarly, DEHP(l00 mg/kg/day) was administered daily from postnatal day 25 through the day when the first V.O. in control group was observed, and the animals were sacrificed on the next day(day 36). To determine the transcriptional changes in the hormone receptors, total RNAs were extracted from ovary and uterus and were applied to semi-quantitative reverse transcription polymerase chain reaction(RT-PCR). In the GS group, the transcriptional activities of $ER\;{\alpha}$, $ER\;{\beta}$ and LHR in uterus and LHR in ovary were significantly increased when compared to those of control group. In the DEHP group, the transcriptional activities of all the hormone receptors measured were significantly lowered when compared to those of control group. These alteration of the reproductive hormone receptor expressions in ovary and uterus might be represent the phenotypic aspects(secondary sexual characteristics) such as tissue weights and reproductive hormone levels during perinatal period in immature female rats.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.67-73
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• 2009

Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

• Proceedings of the Korea Society of Environmental Toocicology Conference
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• 2002.10a
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• pp.168-168
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• 2002

To establish a test protocol for the rodent 20-day thyroid/pubertal assay, flutamide and diethylstilbestrol (DES) were administered to intact male Sprague-Dawley rats from postnatal day 33 for 20 days. Flutamide (1, 5, and 25 mg/kg/day) or DES (10, 20, and 40 ug/kg/day) was given once daily by oral gavage to immature male rats. Prepuce separation was significantly delayed in flutamide group and in DES group. One day after the last dose, the rats were killed and pituitary, thyroid, and reproductive organs were removed and weighed. Flutamide treatment resulted in a significant reduction in the weights of epididymides, ventral prostate, seminal vesicles plus coagulating glands and fluid (SVCGF), levator ani. bulbocarvenus muscles (LABC), Cowper's glands, and glans penis. The weight of adrenal glands decreased at % mg/kg/day, while testes and any other organ weights were unaffected. No microscopic changes were observed in the thyroid glands. Serum levels of testosterone wert significantly increased in the flutamide-treated groups and serum levels of estradiol were also increased. A significant reduction in the weights of testes, epididymides, ventral prostate, SVCGF, LABC, Cowpers glands, and glans penis of DES treated group. Serum testosterone and LH decreased significantly in DES group. Decrease of estradiol was observed, but not significant. These results indicate that flutamide and DES delay puberty in the male rat and its mode of action appears to be via altered secretion of steroids, which subsequently affect the development of the reproductive tract. (Supported by the grant from NITR/Korea FDA for Endocrine Disrupter Research.)

• Development and Reproduction
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• v.5 no.1
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• pp.73-79
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• 2001

Recently many studies have reported that total and bioavailable androgens reduced in male and female athletes and that physical exercise reduces the body weight and increases the reproductive abnormalities such as oligomenorrhea, anovulation, inadequate luteal phase, and delayed puberty in women by the inhibition of the hypothalamic-pituitary-gonadal (HPG) axis . In addition, high mileage endurance 겨nning, psychological stress, and military endurance training in men also reduce the secretion of reproductive hormones. To investigate the efffcts of physical endurance exercise on the secretion of reproductive hormones in men, androgenic hormones from adrenal glands and testis were measured in serum by the conventional radioimmunoassays after long-term (more than3 months), short-term (1 week), and acute (1${sim}$2 hours) physical exercises. Androgenic hormones from adrenal glands and testis such as total testosterone (TT), free testosterone (fT), dehydroepiandrosterone (DHEA), and androstenedione (A) decreased after thesestrenuous endurance trainings, whereas ACTH, cortisol, and dehydroepiandrosterone sulfetes (DHEAS) increased. Conadotropins (LH and FSH) were not idluenced by the physical exercises. Based upon the present results, we assume that the decrease in adrenal and testicular androgens by physical endurance exercises might be associated with the reproductive abnormalities in athletes by unknown factor(s) in addition to the HPG axis disturbance.