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Neonatal acme as initial manifestation of congenital hyperplasia of suprarenal glands — Case report
S124
Abstracts
Background and aim
Conclusions
The small for gestational age (SGA) infants have an increased risk for the development of metabolic syndrome, which comprises the glucose intolerance, dyslipidemia, hypertension, and atherosclerosis, later in life. Adiponectin regulates the whole body energy homeostasis; it enhances insulin sensitivity and has antiatherogenic properties. The insulin resistance of peripheral tissues assures an adequate supply of glucose to the brain. It has not been determined when in postnatal life these changes start to occur. The aim of our study was to determine the serum adiponectin levels and insulin resistance in SGA newborn infants.
The prevalence of CH is associated with the birth weight and gestational age. To reduce the prevalence of CH in children, it is crucial to prevent preterm cases.
Materials and methods
Edite Goncalves⁎, Sofia Granja, Ana Vilan, Susana Pissarra, Gorette Silva, Manuel Fontoura, Hercília Guimarães Hospital São João, Porto, Portugal
Serum levels of adiponectin, fasting glucose, insulin, glucose/insulin (G/I) ratio and the homeostasis model assessment of insulin resistance index (HOMA-IR), were determined in 43 SGA neonates and compared to 27 appropriate for gestational age (AGA) neonates. Results The mean serum adiponectin in SGA neonates was significantly lower than in AGA neonates (32.81 vs. 42.04 mg/L, p = 0.001). There was no significant difference in fasting glucose levels between SGA and AGA neonates (4.57 vs. 4.63 mmol/L respectively). In SGA neonates a statistically insignificant higher fasting insulin levels (9.13 vs. 7.92 mIU/L), lower G/I ratio (2.12 vs. 2.74 mol/IU) and higher HOMA-IR (2.22 vs. 1.85) in comparison to AGA neonates were observed.
doi:10.1016/j.earlhumdev.2008.09.321
Abstract UENPS.306 Hypoglicemia associated with charge syndrome
Background and aim Diagnosis of CHARGE Syndrome is based on major and minor clinical criteria. Major criteria include ocular coloboma, choanal atresia, cranial nerve anomalies and ear abnormalities. Minor criteria refer to cardiovascular malformations, genital hypoplasia, cleft lip/palate, tracheoesophageal fistula, facial anomalies, growth hormone deficiency and developmental delay. The diagnosis is made when four major or three major and three minor criteria are present. This work presents a case of CHARGE Syndrome with growth hormone deficiency. Materials and methods Review of clinical data and case report.
Conclusions Results According to our results SGA neonates demonstrated significantly reduced serum adiponectin levels in comparison to AGA neonates. Lower levels of adiponectin, being a protein with insulin sensitising properties, could lead to insulin resistance which, according to our results (higher HOMA-IR in SGA), could already be present in the newborn period. doi:10.1016/j.earlhumdev.2008.09.320
Abstract UENPS.305 Correlation of congenital hypothyroidism with birth weight and gestational age in newborn infants
The authors present the case of a preterm female newborn born by caesarean section after a gestation complicated by polyhydramnios. The newborn presented with respiratory distress requiring immediate ventilatory support and was transferred to the NICU. On physical examination one supernumerary finger, ocular hypertelorism and low implantation of the ears was noted. She also presented bilateral ocular coloboma and unilateral peripheral facial palsy. Esophageal atresia with tracheoesophageal fistula was diagnosed and surgically corrected, followed by correction of choanal atresia. Hearing screening tests were abnormal unilaterally. Echocardiogram revealed a patent ductus arteriosus, which was surgically corrected at one month of age. Head ultrasound and cerebral magnetic resonance imaging were normal. At one and a half months of age persistent episodes of hypoketotic hypoglycaemia were observed, and the evaluation demonstrated growth hormone deficiency. Therapy with growth hormone was initiated, and glucose levels normalised.
Amiri Zahra Mohtasham, Mojtaba Hosein –Zadeh⁎, S. Mehdi Moosavi, Mahyar Edalatkhah Guilan University of Medical Sciences, Rasht, Iran
Conclusions
Background and aim
CHARGE syndrome is a polymalformative association which may be difficult to recognize. Early detection of growth hormone deficiency and timely substitution is important for metabolic control of these patients.
Objective: To investigate the correlation of congenital hypothyroidism (CH) with birth weight and gestational age in newborn infants.
doi:10.1016/j.earlhumdev.2008.09.322
Materials and methods Methods: The screening of CH was conducted in all the live births in 2006 of urban area of Rasht city. The blood samples were collected from heel stick between the third and seventh days after birth. The thyroid stimulating hormone (TSH) was measured and If TSH was >5.0 mU/L, the infant was recalled for retest after 4 weeks of age.
Abstract UENPS.307 Neonatal acme as initial manifestation of congenital hyperplasia of suprarenal glands — Case report Syriopoulou Theodora⁎,a, Polykarpou Elenib, Fourlani Elenic, Fouzas Sotiriosd General Hospital of Kalamata, Kalamata, Greece b Alexandra Hospital, Athens, Greece c Agia Sofia University Hospital, Athens, Greece d University Hospital of Patras, Patras, Greece a
Results A total of 9284 infants were screened in 2006, of whom 225 cases had TSH > 5.0 mU/L. The repeat test showed TSH levels > or = 10 mIU/L in 16 of them. The prevalence rate was 1.7 per 1000. The prevalence of premature infants, low birth weight infants were 1.4% and 5.4% respectively. The CH prevalence was significantly higher in premature infants in comparison to term infants but there was not any CH prevalence differences between low birth weight infants with others(p < 0.01).
Background and aim Neonatal acme appears by birth, up to the 3rd month of life in boys, while between the 3rd month and the 2nd year of life in boys and girls as well. It is attributed either to the stimulation of sebaceous glands, or to the
Abstracts
androgenital hormones through the fetus transplacentaly. The exanthema is similar to common acme, exclusively located on the face and recedes in about the 3rd month of life. The condition is usually benign and requires no therapy. It is reported the case of congenital hyperplasia of suprarenal glands that was manifested through neonatal acme in infant. Materials and methods Male infant from fully terminated pregnancy, eutocus, following a normal gestation, with birth weight 3.120 g, that showed signs of acme during the first 24 h of its life. The objective examination of the infant showed the existence of dermal damage (papula, comedos), over the cheeks, chin and forehead, without other pathological findings. Local anti-inflammatory treatment with mild Keratolytic factor (3% sulfur salicylic acid) was applied for 15 days and was suggested reevaluation of the infant's condition at the end of treatment. The mother returned 4 months later as neonatal acme insisted despite of the application of alternative treatments. The infant showed signs of neonatal acme (with increased number of papula) located at the initial points of eruption, without improvement, and hyperpigmentation of scrotum. Laboratory testing was performed (Blood testing, biochemical testing, serological testing and hormonal testing). Results Blood and biochemical testing were found between normal ranges, while serological testing (TORCH) was found negative of congenital infections. Hormonal testing showed decreased cortisol in serum (1 μg/dl) and increased 17-hydracidrogesterone (11 nmol/L), androstenedione (0.8 ng/ mL) and testosterone (19 pg/mL). The infant was referred to an infant endocrinological center, where it was diagnosed with congenital hyperplasia of adrenal glands (classic form — without salt deprivation) and began treatment with glucocorticoids per os (hydrocortisone). Conclusions The incident is presented because of its rarity. The exanthema of neonatal acme is usually mild and recesses in few weeks. When the damage is enough and insists, the investigation of any hormonal disturbance (as the relative hyperplasia of adrenal glands) is essential. doi:10.1016/j.earlhumdev.2008.09.323
Abstract UENPS.308 Panhypopituitarism in the newborn — A rare disease Alexandra Gavino⁎, José Onofre Hospital de Santarém, Santarém, Portugal Background and aim Panhypopituitarism is a condition of inadequate or absent production of the pituitary hormones. It's a rare disease, especially in the newborn, with a possible incidence of fewer than 3 cases per million people per year. The effects of the disease are dependent on the hormones affected and the diagnosis requires a high index of suspicion. Failure to recognize and treat clinical manifestation of hypopituitarism can result in significant sequelae. Materials and methods A 15-months-old boy with no medical family history. Full-term infant, uncomplicated pregnancy, cesarean due to CTG desacelerations and Apgar Score 4/7/8. He was admitted in the Intermediate Neonatal Intensive Care Unit for 10 days due to the neonatal asphyxia, generalized jaundice and infectious risk. Medicated with ampicilin, gentamicin and Phototherapy. Re-internment at 1month-old due to generalized jaundice, hypotonia and failure to thrive. His physical examination revealed doll's face and micropenis. Results Laboratory data: hypoglycemia 50 mg/dl, hyperbilirubinaemia total bilirrubin 22.6 mg/dl and direct 1.1 mg/dl, GOT 249 U/L, GPT 70 U/L, Central hypothyroidism
S125
TSH 0.0 μUI/mL, Ft4 0.4 ng/dl, growth hormone deficit hGH>0.005 ng/mL, low ACTH e seric cortisol ACTH 26.5 pg/mL; cortisol 5.13 μg/dl. MRI revealed anterior pituitary gland apoplexy. Treatment with L-tiroxin, hydrocortisone, and growth hormone will result in clinical and laboratory improvement. At 15 month-old, he has progressively improved his delayed motor development and maintains low length-for-age percentiles. Laboratory data demonstrates normalized values for Ft4, hepatic enzymes and Bilirrubin. TSH, IgF1, Cortisol and ACTH resulted in slightly under the minimum standard values. Conclusions This rare panhypopituitarism case file alerts to the importance of early diagnosis and treatment to prevent sequels, especially neurological ones. Hormonal replacement treatment has permitted to the present patient to slowly improve his motor and stature development delay. doi:10.1016/j.earlhumdev.2008.09.324
Abstract UENPS.309 Relation of birth weight with umblical cord growth hormone, insulin like growth factors, ghrelin, and leptin levels in term and preterm neonates Resit Koken⁎, Aysegul Bukulmez, Hamide Melek, Tulay Koken, Gulengul Koken, Ozlem Guraksin, Bugra Koca Afyonkarahisar, Turkey Background and aim To measure ghrelin, leptin and IGF-I levels of umblical cord in preterm and term neonates and observe their relations with natal anthropometric values. Materials and methods This prospective case–control study was performed between July 2007 and December 2007 in Afyon Kocatepe University, Faculty of Medicine. Birth weights, heights, and head circumferences of babies who born in Obstetric and Gynecologic Clinic, were measured. Gestational ages of babies were estimated according to the last date of maternal menstruation. After the delivery, venous cordon blood sample of babies were collected, centrifuged at 4000 rate per minute for 10 min, frozen at − 80 °C, and preserved. Ghrelin, leptin and IGF-I levels were measured in collected serum samples. Results Of 87 subjects, 45 were girl and 42 were boy. Fifteen were preterm and 72 were term babies. No significant correlation was found in comparison of ghrelin, leptin and IGF-I levels according to gestational age, delivery way, and gender. Birth weight, height, head circumference, and IGF-1 showed negative correlation with ghrelin. Conclusions Ghrelin may have an important role in intrauterine growth. doi:10.1016/j.earlhumdev.2008.09.325
Abstract UENPS.310 Severe late-onset neonatal hypocalcemia due to unrecognized maternal hyperparathyroidism George Mitsiakos⁎,a, Hlias Chatziionnidisa, Anestis Hliasa, Dimitrios Goulisb, Christos Tsametisb, Despoina Lavoua, Aggelos Dimitrakoudisa, Nikolaos Nikolaidisa a B' NICU Aristotle University Thessaloniki, Thessaloniki, Greece b A' Department of Obstetric and Gynecology Aristotle University of Thessaloniki, Thessaloniki, Greece
Abstracts
Background and aim
Conclusions
The small for gestational age (SGA) infants have an increased risk for the development of metabolic syndrome, which comprises the glucose intolerance, dyslipidemia, hypertension, and atherosclerosis, later in life. Adiponectin regulates the whole body energy homeostasis; it enhances insulin sensitivity and has antiatherogenic properties. The insulin resistance of peripheral tissues assures an adequate supply of glucose to the brain. It has not been determined when in postnatal life these changes start to occur. The aim of our study was to determine the serum adiponectin levels and insulin resistance in SGA newborn infants.
The prevalence of CH is associated with the birth weight and gestational age. To reduce the prevalence of CH in children, it is crucial to prevent preterm cases.
Materials and methods
Edite Goncalves⁎, Sofia Granja, Ana Vilan, Susana Pissarra, Gorette Silva, Manuel Fontoura, Hercília Guimarães Hospital São João, Porto, Portugal
Serum levels of adiponectin, fasting glucose, insulin, glucose/insulin (G/I) ratio and the homeostasis model assessment of insulin resistance index (HOMA-IR), were determined in 43 SGA neonates and compared to 27 appropriate for gestational age (AGA) neonates. Results The mean serum adiponectin in SGA neonates was significantly lower than in AGA neonates (32.81 vs. 42.04 mg/L, p = 0.001). There was no significant difference in fasting glucose levels between SGA and AGA neonates (4.57 vs. 4.63 mmol/L respectively). In SGA neonates a statistically insignificant higher fasting insulin levels (9.13 vs. 7.92 mIU/L), lower G/I ratio (2.12 vs. 2.74 mol/IU) and higher HOMA-IR (2.22 vs. 1.85) in comparison to AGA neonates were observed.
doi:10.1016/j.earlhumdev.2008.09.321
Abstract UENPS.306 Hypoglicemia associated with charge syndrome
Background and aim Diagnosis of CHARGE Syndrome is based on major and minor clinical criteria. Major criteria include ocular coloboma, choanal atresia, cranial nerve anomalies and ear abnormalities. Minor criteria refer to cardiovascular malformations, genital hypoplasia, cleft lip/palate, tracheoesophageal fistula, facial anomalies, growth hormone deficiency and developmental delay. The diagnosis is made when four major or three major and three minor criteria are present. This work presents a case of CHARGE Syndrome with growth hormone deficiency. Materials and methods Review of clinical data and case report.
Conclusions Results According to our results SGA neonates demonstrated significantly reduced serum adiponectin levels in comparison to AGA neonates. Lower levels of adiponectin, being a protein with insulin sensitising properties, could lead to insulin resistance which, according to our results (higher HOMA-IR in SGA), could already be present in the newborn period. doi:10.1016/j.earlhumdev.2008.09.320
Abstract UENPS.305 Correlation of congenital hypothyroidism with birth weight and gestational age in newborn infants
The authors present the case of a preterm female newborn born by caesarean section after a gestation complicated by polyhydramnios. The newborn presented with respiratory distress requiring immediate ventilatory support and was transferred to the NICU. On physical examination one supernumerary finger, ocular hypertelorism and low implantation of the ears was noted. She also presented bilateral ocular coloboma and unilateral peripheral facial palsy. Esophageal atresia with tracheoesophageal fistula was diagnosed and surgically corrected, followed by correction of choanal atresia. Hearing screening tests were abnormal unilaterally. Echocardiogram revealed a patent ductus arteriosus, which was surgically corrected at one month of age. Head ultrasound and cerebral magnetic resonance imaging were normal. At one and a half months of age persistent episodes of hypoketotic hypoglycaemia were observed, and the evaluation demonstrated growth hormone deficiency. Therapy with growth hormone was initiated, and glucose levels normalised.
Amiri Zahra Mohtasham, Mojtaba Hosein –Zadeh⁎, S. Mehdi Moosavi, Mahyar Edalatkhah Guilan University of Medical Sciences, Rasht, Iran
Conclusions
Background and aim
CHARGE syndrome is a polymalformative association which may be difficult to recognize. Early detection of growth hormone deficiency and timely substitution is important for metabolic control of these patients.
Objective: To investigate the correlation of congenital hypothyroidism (CH) with birth weight and gestational age in newborn infants.
doi:10.1016/j.earlhumdev.2008.09.322
Materials and methods Methods: The screening of CH was conducted in all the live births in 2006 of urban area of Rasht city. The blood samples were collected from heel stick between the third and seventh days after birth. The thyroid stimulating hormone (TSH) was measured and If TSH was >5.0 mU/L, the infant was recalled for retest after 4 weeks of age.
Abstract UENPS.307 Neonatal acme as initial manifestation of congenital hyperplasia of suprarenal glands — Case report Syriopoulou Theodora⁎,a, Polykarpou Elenib, Fourlani Elenic, Fouzas Sotiriosd General Hospital of Kalamata, Kalamata, Greece b Alexandra Hospital, Athens, Greece c Agia Sofia University Hospital, Athens, Greece d University Hospital of Patras, Patras, Greece a
Results A total of 9284 infants were screened in 2006, of whom 225 cases had TSH > 5.0 mU/L. The repeat test showed TSH levels > or = 10 mIU/L in 16 of them. The prevalence rate was 1.7 per 1000. The prevalence of premature infants, low birth weight infants were 1.4% and 5.4% respectively. The CH prevalence was significantly higher in premature infants in comparison to term infants but there was not any CH prevalence differences between low birth weight infants with others(p < 0.01).
Background and aim Neonatal acme appears by birth, up to the 3rd month of life in boys, while between the 3rd month and the 2nd year of life in boys and girls as well. It is attributed either to the stimulation of sebaceous glands, or to the
Abstracts
androgenital hormones through the fetus transplacentaly. The exanthema is similar to common acme, exclusively located on the face and recedes in about the 3rd month of life. The condition is usually benign and requires no therapy. It is reported the case of congenital hyperplasia of suprarenal glands that was manifested through neonatal acme in infant. Materials and methods Male infant from fully terminated pregnancy, eutocus, following a normal gestation, with birth weight 3.120 g, that showed signs of acme during the first 24 h of its life. The objective examination of the infant showed the existence of dermal damage (papula, comedos), over the cheeks, chin and forehead, without other pathological findings. Local anti-inflammatory treatment with mild Keratolytic factor (3% sulfur salicylic acid) was applied for 15 days and was suggested reevaluation of the infant's condition at the end of treatment. The mother returned 4 months later as neonatal acme insisted despite of the application of alternative treatments. The infant showed signs of neonatal acme (with increased number of papula) located at the initial points of eruption, without improvement, and hyperpigmentation of scrotum. Laboratory testing was performed (Blood testing, biochemical testing, serological testing and hormonal testing). Results Blood and biochemical testing were found between normal ranges, while serological testing (TORCH) was found negative of congenital infections. Hormonal testing showed decreased cortisol in serum (1 μg/dl) and increased 17-hydracidrogesterone (11 nmol/L), androstenedione (0.8 ng/ mL) and testosterone (19 pg/mL). The infant was referred to an infant endocrinological center, where it was diagnosed with congenital hyperplasia of adrenal glands (classic form — without salt deprivation) and began treatment with glucocorticoids per os (hydrocortisone). Conclusions The incident is presented because of its rarity. The exanthema of neonatal acme is usually mild and recesses in few weeks. When the damage is enough and insists, the investigation of any hormonal disturbance (as the relative hyperplasia of adrenal glands) is essential. doi:10.1016/j.earlhumdev.2008.09.323
Abstract UENPS.308 Panhypopituitarism in the newborn — A rare disease Alexandra Gavino⁎, José Onofre Hospital de Santarém, Santarém, Portugal Background and aim Panhypopituitarism is a condition of inadequate or absent production of the pituitary hormones. It's a rare disease, especially in the newborn, with a possible incidence of fewer than 3 cases per million people per year. The effects of the disease are dependent on the hormones affected and the diagnosis requires a high index of suspicion. Failure to recognize and treat clinical manifestation of hypopituitarism can result in significant sequelae. Materials and methods A 15-months-old boy with no medical family history. Full-term infant, uncomplicated pregnancy, cesarean due to CTG desacelerations and Apgar Score 4/7/8. He was admitted in the Intermediate Neonatal Intensive Care Unit for 10 days due to the neonatal asphyxia, generalized jaundice and infectious risk. Medicated with ampicilin, gentamicin and Phototherapy. Re-internment at 1month-old due to generalized jaundice, hypotonia and failure to thrive. His physical examination revealed doll's face and micropenis. Results Laboratory data: hypoglycemia 50 mg/dl, hyperbilirubinaemia total bilirrubin 22.6 mg/dl and direct 1.1 mg/dl, GOT 249 U/L, GPT 70 U/L, Central hypothyroidism
S125
TSH 0.0 μUI/mL, Ft4 0.4 ng/dl, growth hormone deficit hGH>0.005 ng/mL, low ACTH e seric cortisol ACTH 26.5 pg/mL; cortisol 5.13 μg/dl. MRI revealed anterior pituitary gland apoplexy. Treatment with L-tiroxin, hydrocortisone, and growth hormone will result in clinical and laboratory improvement. At 15 month-old, he has progressively improved his delayed motor development and maintains low length-for-age percentiles. Laboratory data demonstrates normalized values for Ft4, hepatic enzymes and Bilirrubin. TSH, IgF1, Cortisol and ACTH resulted in slightly under the minimum standard values. Conclusions This rare panhypopituitarism case file alerts to the importance of early diagnosis and treatment to prevent sequels, especially neurological ones. Hormonal replacement treatment has permitted to the present patient to slowly improve his motor and stature development delay. doi:10.1016/j.earlhumdev.2008.09.324
Abstract UENPS.309 Relation of birth weight with umblical cord growth hormone, insulin like growth factors, ghrelin, and leptin levels in term and preterm neonates Resit Koken⁎, Aysegul Bukulmez, Hamide Melek, Tulay Koken, Gulengul Koken, Ozlem Guraksin, Bugra Koca Afyonkarahisar, Turkey Background and aim To measure ghrelin, leptin and IGF-I levels of umblical cord in preterm and term neonates and observe their relations with natal anthropometric values. Materials and methods This prospective case–control study was performed between July 2007 and December 2007 in Afyon Kocatepe University, Faculty of Medicine. Birth weights, heights, and head circumferences of babies who born in Obstetric and Gynecologic Clinic, were measured. Gestational ages of babies were estimated according to the last date of maternal menstruation. After the delivery, venous cordon blood sample of babies were collected, centrifuged at 4000 rate per minute for 10 min, frozen at − 80 °C, and preserved. Ghrelin, leptin and IGF-I levels were measured in collected serum samples. Results Of 87 subjects, 45 were girl and 42 were boy. Fifteen were preterm and 72 were term babies. No significant correlation was found in comparison of ghrelin, leptin and IGF-I levels according to gestational age, delivery way, and gender. Birth weight, height, head circumference, and IGF-1 showed negative correlation with ghrelin. Conclusions Ghrelin may have an important role in intrauterine growth. doi:10.1016/j.earlhumdev.2008.09.325
Abstract UENPS.310 Severe late-onset neonatal hypocalcemia due to unrecognized maternal hyperparathyroidism George Mitsiakos⁎,a, Hlias Chatziionnidisa, Anestis Hliasa, Dimitrios Goulisb, Christos Tsametisb, Despoina Lavoua, Aggelos Dimitrakoudisa, Nikolaos Nikolaidisa a B' NICU Aristotle University Thessaloniki, Thessaloniki, Greece b A' Department of Obstetric and Gynecology Aristotle University of Thessaloniki, Thessaloniki, Greece