Full-term Females Research Articles

A Neonate With a Rash.

A full-term female was admitted at 3 days of life with a worsening rash since birth, concerning for infection. She developed clinical seizures and was transferred to our facility. She was admitted to the pediatric hospital medicine service and diagnostic workup was expanded with several specialists consulted. Presumptive diagnosis was made clinically, with definitive diagnosis established thereafter.

ODP375 Absence of Virilization With Completely Normal Phenotype in a Newborn Female With Salt-Wasting Classical CAH

Abstract Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the disruption of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form and is caused by the mutations in the 21-hydroxylase (CYP21A2) gene. Deficiency in the 21-hydroxylase enzyme can affect aldosterone and cortisol production and shift the pathway to increased androgen production. It is classified as classical and nonclassical depending on the severity of enzyme deficiency. The classical form can present as a life-threatening salt-wasting or a milder form of simple virilizing CAH. Female patients with classical 21-hydroxylase deficiency present with ambiguous genitalia secondary to increased androgen production. We present a case of salt-wasting classical CAH in a female patient with no signs of virilization that was diagnosed based on newborn screening. Case presentation A four-day-old full-term female was referred to our hospital for elevated 17 hydroxyprogesterone (17-OHP) on a newborn screen. She was born via normal vaginal delivery with an uncomplicated prenatal and postnatal course. Her newborn screen was drawn at day 1 of life resulted in 17-OHP of 128.20 nmol/L (normal cutoff of 85 nmol/L). Otherwise, she was active, feeding well with no other concerns. On admission, her vital signs were within normal, with an unremarkable physical examination. Specifically, the genitourinary exam demonstrated normal female external genitalia with no evidence of virilization, no clitoromegaly with a clitoris length of 12 mm and width 1-2 mm, no hyperpigmentation, and with normal-appearing vaginal orifice and urethral meatus. Confirmatory 17-OHP by mass spectrometry was sent along with the metabolic panel, and her initial electrolytes were within normal. Since there was a low suspicion for salt-wasting CAH given her normal labs and unremarkable physical exam, medication was not started, and the patient was admitted for monitoring. The potassium level trended up abnormally to 6.3 mmol/L, which prompted the initiation of empiric treatment with a physiologic dose of Hydrocortisone and Florinef on day of life 7, pending confirmatory 17-OHP level. Confirmatory17-OHP was 1242 ng/dL (normal <78) and following stimulation with Cosyntropin a markedly elevated 17-OHP 27,929.31 ng/dL (normal expected 7-106) and low cortisol level 2 mcg/dL, for which definitive treatment with hydrocortisone and Florinef were initiated. Subsequent genetic testing confirmed the diagnosis of 21-hydroxylase deficiency with mutations in the CYP21A2 gene for I172N, R356W, and c. *13G>A. Further genetic workup to explain the complete lack of virilization, including assessment of an androgen insensitivity panel and whole-exome sequencing, was unremarkable. Conclusion This case illustrates the critical importance of heel-stick newborn screening for CAH to prevent a life-threatening salt-wasting crisis as female patients with classical CAH can present with a phenotypic complete lack of virilization that could be misleading and fatal if not recognized. Presentation: No date and time listed

A 12-Day-Old Female with Hypothermia, Hypoglycemia and Hyperbilirubinemia.

A 12-day-old, full-term female, born small for gestational age, presented to the emergency department with a 1-week history of worsening hyperbilirubinemia, intermittent hypoglycemia, and episodic hypothermia. The baby's emergency department evaluation revealed transaminitis, pneumatosis intestinalis, indirect hyperbilirubinemia, and hypoglycemia. She was admitted to the ICU and received intravenous glucose, bowel rest, and phototherapy. Thyroid-stimulating hormone, thyroxine, and cortisol levels were low, and growth hormone was undetectable. The patient was hospitalized for a total of 19 days and was discharged from the hospital.

Variations in the Initial Presentation of a Rare Congenital Adrenal Hyperplasia: Steroidogenic Acute Regulatory Deficiency

Background: Steroidogenic Acute Regulatory (StAR) deficiency is a rare form of congenital adrenal hyperplasia characterized by dysregulated cholesterol transport mediated by StAR enzyme across mitochondrial membranes. Adrenal dysfunction is due to the two-hit hypothesis: 1) defective StAR protein and 2) cholesterol accumulation in the adrenals and gonads. With variable cellular damage, adrenal crisis can occur early or late. Clinical cases: We present two cases of StAR deficiency with contrasting presentations. Case 1: A 9-day old ex full term female from a nonconsanguineous union presented to a rural hospital with hypothermia, lethargy, and poor feeding. She had hypoglycemia 41 mg/dL (60–105), hyponatremia 120 mEq/L (135–145), hyperkalemia 7.7 mEq/L (3.5–5.5) and cortisol < 0.4 ug/dL (4.5–23). Baby was started on hydrocortisone (HCT) 100 mg/m2 and one-time fludrocortisone (FCT). She decompensated requiring chest compressions, intubation and pressors. She was transferred to our institution. Newborn screen was normal; she had typical female external genitalia. US demonstrated a uterus; ovaries and adrenals were not identified. Upon extubation and clinical improvement, her HCT was weaned to physiologic doses. She became hyponatremic requiring FCT and salt supplements. Post-HCT wean, ACTH level was 304 pg/mL (7–63) with aldosterone < 4.0 ng/dL (6.5–86). Karyotype was 46,XX. Genetic analysis revealed a novel heterozygous likely pathogenic variant in the STAR gene, (STAR c.65-12_68del variant) without defect in the other STAR gene. Case 2: A 9-month-old ex full-term female of Iraqi descent from a nonconsanguineous union presented with fatigue, poor oral intake and weight loss from 50%-ile to 3%-ile. She had hyponatremia 122 mEq/L, hyperkalemia 8.0 mEq/L, but was normoglycemic. She was normotensive; EKG was normal. Parents noted progressive hyperpigmentation including her gums, palmar and plantar creases. She had typical external female genitalia with a hypoplastic clitoris (2 mm x 2 mm). ACTH stimulation test showed low cortisol (0.5 ug/dL) at 60 minutes. She was treated with HCT 100 mg/m2 for 5 days, then tapered to maintenance dosing, with FCT and salt supplements. Her ACTH level returned > 5000 pg/ml. Aldosterone, 17-OH-Progesterone, 17-OH-Pregnenolone, 11-Deoxycortisol and androstenedione were undetectable. Pelvic US did not identify uterus or ovaries. Pelvic MRI identified bilateral inguinal testes with enlarged adrenal glands. Karyotype was 46, XY. We suspected StAR deficiency with sex-reversal. Genetic analysis revealed a known homozygous mutation in STAR (c.545G>A). Conclusion: StAR deficiency is clinically indistinguishable from P450scc deficiency and genetic testing is needed. Both entities can present with early or delayed adrenal crisis. While classic for StAR deficiency, adrenal enlargement is inconsistent. Karyotype is vital to identify sex reversal.

Newborn antibodies to SARS-CoV-2 detected in cord blood after maternal vaccination \u2013 a case report

BackgroundMaternal vaccination for Influenza and Tetanus, Diphtheria, acellular Pertussis (TDaP) have been well studied in terms of safety and efficacy for protection of the newborn by placental passage of antibodies. Similar newborn protection would be expected after maternal vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for coronavirus disease 2019 (COVID-19). There is a significant and urgent need for research regarding safety and efficacy of vaccination against SARS-CoV-2 during pregnancy.Case presentationA vigorous, healthy, full-term female was born to a COVID-19 naïve mother who had received a single dose of messenger RNA (mRNA) vaccine for SARS-CoV-2 3 weeks prior to delivery. IgG cord blood antibodies were detected to SARS-CoV-2 at the time of birth.ConclusionHere, we report the first known case of an infant with SARS-CoV-2 IgG antibodies detectable in cord blood after maternal vaccination.

Number and distribution of myofibroblasts and α-smooth muscle actin expression levels in fetal membranes with and without gestational complications.

The permeability and tension of fetal membranes (FMs) is associated with extracellular matrix proteins produced largely by myofibroblasts (MFBBs). α-smooth muscle actin (α-SMA) is involved in the contraction of MFBBs and has been implicated as a special biomarker of MFBBs in non-vessel FM. The present study demonstrated, by using immunohistochemistry, reverse-transcription polymerase chain reaction and western blotting, that MFBBs were mainly distributed in chorioamniotic mesoderm at 16-21 weeks and in chorionic mesoderm at 22-40 weeks, respectively, while overlapping with each other at 16-40 weeks. In addition, a quantity of MFBBs were identified in chorionic epithelia at 16-40 weeks. The MFBBs were distributed parallel to the FMs. The quantities of MFBBs and the expression levels of α-SMA were negatively associated with increasing gestational progress and of amniotic fluid indexes in full-term females (those from oligohydramnios were higher than polyhydramnios); however, the thickness of the FM's mesoderm remained unchanged. Of note, the number of MFBBs in early-onset severe pre-eclampsia (EOSP) was significantly decreased in comparison with that in EOSP controls and late-onset severe pre-eclampsia (LOSP), while that in LOSP was higher than that in LOSP controls. The present data indicated that the changes in the quantity and distribution of MFBBs in the FM affects the permeability and tension of the FM. In addition, the findings suggested that the expression levels of α-SMA in the FM also contributed to the properties of the FM. Simultaneously, the number and distribution of MFBBs and the expression levels of α-SMA in the FM may be involved in the mechanisms of development, apoptosis and trophoblast-MFBB transformation of the FM.

Sexual precocity in hypomelanosis of Ito: mosaicism‐associated case report and literature review

Hypomelanosis of Ito (HI), a neurocutaneous disorder characterized by hypopigmented skin lesions along Blaschko's line with multiple accompanying diseases, may occasionally present with sexual precocity. We reviewed cases of HI with sexual precocity reported in the literature and focused on collecting information on other associated organ abnormalities, chromosomal karyotype, and type of sexual precocity. We also present our own case report. Five children with sexual precocity in HI were studied. All patients were full-term females without significant family history. Their ages ranged from three years to 11 years. Skin lesions involved the trunk and limbs. Developmental delay was present in all patients. Central nervous system involvement was found in four patients. Craniofacial abnormalities were present in four patients. Eye involvement was present in two patients. Limb abnormalities (brachydactyly and clinodactyly) were present in two patients. Skeletal organ involvement was present in three patients. Other skin lesions were present in three patients. Dental abnormalities occurred in one patient. Of the five patients, four demonstrated a peripheral type of sexual precocity, and one presented with central type sexual precocity. Vaginal bleeding was present in two patients. Chromosomal karyotype abnormalities were found in two patients, and mosaicism was present in one of these. Hypomelanosis of Ito is a syndrome characterized by cutaneous signs frequently associated with nervous, ocular, and musculoskeletal system abnormalities. Although it is rarely reported in conjunction with HI, physicians should recognize sexual precocity as a possible associated symptom.

Papulovesicular eruption in a newborn full-term female

Papulovesicular eruption in a newborn full-term female

Multislice spiral computed tomography in a neonate with symptomatic non-involuting congenital hemangioma

A full-term female was delivered with a 4×6-cm soft, hemispheric and blue-colored tumor on the right temporal scalp behind the ear. The present patient developed tachypnea and feeding difficulty soon after birth. Ultrasound examination revealed typical findings of congenital hemanigoma. Multislice spiral computed tomography (MSCT) was performed prior to endovascular coil embolization. MSCT showed that the tumor consisted of tortuous and irregular vessels with feeding arteries including the right occipital artery, the right superficial temporal artery and the right posterior auricular artery. At 12 months of age, the hemangioma remained unchaned, which was consistent with non-involuting congenital hemangioma. We consider that MSCT is a useful and non-invasive imaging tool to depict the precise vascular structure of congenital hemangioma even in a neonate. We present herewith a case of a neonate with non-involuting congenital hemangioma (NICH) who had symptoms related to arteriovenous shunts. Transcatheter coil embolization or surgical resection is occasionally performed in a symptomatic patient with NICH [3]. We studied multislice spiral computed tomography (MSCT) prior to transcathter coil embolization to evaluate the vascular structure in a symptomatic neonate with NICH. MSCT is one of useful imaging tools to depict vascular structures of congenital hemanigoma.

Extensive Perineal Infantile Hemangioma with Associated Congenital Anomalies: An Example of the PELVIS Syndrome

Extensive Perineal Infantile Hemangioma with Associated Congenital Anomalies: An Example of the PELVIS Syndrome

Congenital hairy polyp of the nasopharynx: A case report

Hairy polyps are very rare benign tumors that can occur anywhere in the body, and they are the most common congenital nasopharyngeal masses. A two-day-old full-term female was admitted to the newborn Special Care Unit with noisy breathing, intermittent upper airway obstruction and feeding difficulty. A 3.4 kg infant was born by spontaneous vaginal delivery to a healthy mother, following a normal pregnancy. On admission, she presented with noisy inspiratory breathing which was louder and more labored in prone position. Flexible endoscopy showed a pale sausage-like mass protruding from nasopharynx just behind the soft palate, to the oropharynx and back. A computed tomography scan showed a 1.8 cm round mass in the right nasopharynx, with central fat density and no intracranial communication. The mass was excised transorally with no evidence of a residual tumor. The infant made a full and uneventful postoperative recovery. Hairy polyps usually occur as isolated defects and they are not associated with other congenital anomalies. Genetic predisposition has not been established. It does not have malignant alteration. However, there is some confusion about the histological classification of these lesions. One theory supports the idea that hairy polyps originate from disturbed development of stomodeum in the 28th week of gestation and regression of the nasopharyngeal membrane. The second theory supports the idea of origin from the first or second bronchial arch. Probably the best assumption would be that it develops as a special and unique entity. Hairy polyp is an unusual malformation that most frequently appears during the first days after birth. Complete resection provides permanent cure.

Developmental changes in hemodynamics of uterine artery, utero- and umbilicoplacental, and vitelline circulations in mouse throughout gestation

In human pregnancy, abnormal placental hemodynamics likely contribute to the etiology of early-onset preeclampsia and fetal intrauterine growth restriction. The mouse is increasingly being deployed to study normal and abnormal mammalian placental development, yet the placental hemodynamics in normal pregnancy in mice is currently unknown. We used ultrasound biomicroscopy to noninvasively image and record Doppler blood velocity waveforms from the maternal and embryonic placental circulations in mice throughout gestation. In the uterine artery, peak systolic velocity (PSV) increased significantly from 23+/-2 (SE) to 59+/-3 cm/s, and end-diastolic velocity (EDV) increased from 7+/-1 to 28+/-2 cm/s in nonpregnant versus full-term females so that the uterine arterial resistance index (RI) decreased from 0.70+/-0.02 to 0.53+/-0.02. Velocities in the maternal arterial canal in the placenta were low and nearly steady and increased from 0.9+/-0.03 cm/s at embryonic day 10.5 (E10.5) to 2.4+/-0.07 cm/s at E18.5. PSV in the umbilical artery increased steadily from 0.8+/-0.1 cm/s at E8.5 to 15+/-0.6 cm/s at E18.5, whereas PSV in the vitelline artery increased from 0.6+/-0.1 cm/s at E8.5 to 4+/-0.2 cm/s at E13.5 and then remained stable to term. In the umbilical artery, the EDV detection rate was 0% at <or=E14.5 and 94% at E18.5, and the RI decreased from 1 to 0.82+/-0.01 during this interval. We conclude that ultrasound biomicroscopy can be used to monitor placental hemodynamics during pregnancy in mice. These results provide novel information concerning the development of the vitelline and placental circulations in mice and reveal strong similarities in placental hemodynamics between mice and humans.

Sex Differences in High-Risk Premature Infants' Asymmetric Movement Development

High-risk premature infants are likely to show altered patterns in the development of reflexes and postural reactions. This study used the Modified-Measure of Behavioral Laterality (M-MOBL) neonatal assessment to explore differences in reflex and postural reactions among 26 male and female high-risk, premature infants born between 23 and 26 weeks gestational age. M-MOBL scores at 33-36.5 weeks were compared to those at 36.5-40 weeks of age, shortly before hospital discharge. The M-MOBL data were analyzed using the categorical method (CATMOD) repeated measures analysis of variance (ANOVAs) to compare the development of asymmetric movement patterns in: (1) non-injured and CNS-injured high-risk, premature infants, (2) control and experimental infants who received multi-sensory stimulation, and (3) males and female infants. Consistent with previously published reports of a right-(R) bias for healthy, full-term infant's movements, we found that high-risk premature females showed R-sided biases by 35-37 weeks post-conceptional age (PCA) for head turning responses and reflexes evoked by upper-body stimulation (i.e., palmar grasp, asymmetric tonic neck reflex (ATNR), incurvation). High-risk premature males however showed no significant difference in strength and coordination between the R-side and the left (L), as measured by the M-MOBL, in most of these upper-body movements tested at 35-37 weeks PCA. Neither premature males nor females showed asymmetries in foot and leg reflexes (placing, plantar grasp, Babinski). Healthy, full-term males did not show asymmetries in these reflexes either. However, full-term females showed an R-bias. With further research, the M-MOBL may become a useful instrument for early identification of infants with atypical CNS development who later exhibit atypical laterality patterns.

Sex Differences in High-Risk Premature Infants' Asymmetric Movement Development

High-risk premature infants are likely to show altered patterns in the development of reflexes and postural reactions. This study used the Modified-Measure of Behavioral Laterality (M-MOBL) neonatal assessment to explore differences in reflex and postural reactions among 26 male and female high-risk, premature infants born between 23 and 26 weeks gestational age. M-MOBL scores at 33-36.5 weeks were compared to those at 36.5-40 weeks of age, shortly before hospital discharge. The M-MOBL data were analyzed using the categorical method (CATMOD) repeated measures analysis of variance (ANOVAs) to compare the development of asymmetric movement patterns in: (1) non-injured and CNS-injured high-risk, premature infants, (2) control and experimental infants who received multi-sensory stimulation, and (3) male and female infants. Consistent with previously published reports of a right-(R) bias for healthy, full-term infants' movements, we found that high-risk premature females showed Rsided biases by 35-37 weeks post-conceptional age (PCA) for head turning responses and reflexes evoked by upper-body stimulation (i.e., palmar grasp, asymmetric tonic neck reflex [ATNR], incurvation). High-risk premature males, however, showed no significant difference in strength and coordination between the R-side and the left (L), as measured by the M-MOBL, in most of these upper-body movements tested at 35-37 weeks PCA. Neither premature males nor females showed asymmetries in foot and leg reflexes (placing, plantar grasp, Babinski). Healthy, full-term males did not show asymmetries in these reflexes either. However, full-term females showed R-bias. With further research, the M-MOBL may become a useful instrument for early identification of infants with atypical CNS development who later exhibit atypical laterality patterns.

Plasticity in Frequency of Reproduction in an Alpine Lizard, Niveoscincus microlepidotus

We report on phenotypic plasticity in the frequency of reproduction in a viviparous, alpine scincid lizard (Niveoscincus microlepidotus) from Tasmania, Australia. After having monitored individually marked females for five years in the wild, we conclude that females never reproduce two years in succession. Instead, female reproduction is biennial to triennial (for those that survive their first reproduction). However, when offered prolonged benign conditions indoors, females may give birth in summer, that is, showing annual reproduction. We have demonstrated elsewhere that full-term females refuse to give birth in autumn when temporarily offered temperatures. Thus, females seem only to go through with parturition within a temporal window in summer but refuse parturition closer to hibernation, through which the full-term young are carried by the female.

Le syndrome de Smith-Lemli-Opitz

Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis of clinical severity: type I is the classic and type II is the severe one. A full term female was born from a pregnancy complicated by oligoamniosis and intra-uterine growth retardation. The neurologic status was immediately impaired with severe hypotonia, absence of reflexes, and abnormal crying. She exhibited multiple congenital anomalies with a facial dysmorphia, anomalies of members, unicornus uterus and a pyloric stenosis. Plasmatic concentration exhibited a normal cholesterolemia contrasting with an elevated level of 7 and 8 DHC. Major alimentary tract defect led to enteral and parenteral nutrition. The severe neurological defect led to death on the 16th day of life. Despite normal blood cholesterol levels that can be attributed to enteral and parenteral nutrition, the severity of clinical findings and the lethal course permit to classify this case as type II.

Gender-specific frequency of background somatic mutations at the hypoxanthine phosphoribosyltransferase locus in cord blood T lymphocytes from preterm newborns.

Limited information is available regarding the frequency, spectrum, and clinical relevance of somatic mutations in the developing fetus. The goal of this study was to determine somatic mutant frequencies (Mfs) at the hypoxanthine phosphoribosyltransferase (HPRT) reporter gene in cord blood T lymphocytes from preterm infants to gain insight into in utero mutational events. Mf determinations were made by using the HPRT T cell cloning assay on cord blood samples from 52 preterm infants. Natural logarithm Mfs (lnMfs) from preterm infants were compared with results from our database for full-term infants. Our analysis revealed higher lnMfs in cord blood T lymphocytes from preterm compared with full-term infants (P = 0.008). In addition, preterm females had significantly higher lnMfs compared with full-term females (P < 0.001), whereas preterm males were found to have significantly lower lnMfs than preterm females (P = 0.005). Regression analyses also demonstrate a significant relationship between lnMf and gestational age for preterm females that does not exist for preterm males. These results demonstrate the gender-specific association between Mf and age in humans.

Preterm infants' responses to aversive stimuli

Irritability levels and activity reactivity to aversive tactile stimuli were compared for 144 full-term neonates and 191 preterm infants. Irritability ratings increased across the five trials both during and post stimulation for full-term females and males and for preterm females, but not for preterm males. Activity ratings decreased across trials during stimulation for all groups except preterm males, and post stimulation for all groups. Females were more irritable than males during stimulation and full-term infants were more active than preterm infants on the initial trial. No other sex or term group differences were observed during or post stimulation. Findings have implications for future studies of infant brain development and stimulation. (Author/AA) ******************************************************************************** * Reproductions supplied by EDRS are the best that can be made * * from the original document. * ******************************************************************************** Preterm Infants' Responses to Aversive Stimuli Marilyn L. Riese, Ph.D. University of Louisville School of Medicine U.S. DEPARTMENT OF EDUCATION Office of Educational Research and Improvement EDUCATIONAL RESOURCES INFORMATION CENTER (ERIC) This document has been reproduced as received from the person or organization originating it. Minor changes have been made to improve reproduction quality. Points of view or opinions stated in this document do not necessarily represent official OERI position or policy. Child Development Unit Health Sciences Center University of Louisville Louisville, Kentucky 40292-0001 PERMISSION TO REPRODUCE AND DISSEMINATE THIS MATERIAL HAS BEEN GRANTED BY

A Case of Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

A Case of Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

Intradural extension of a sacrococcygeal teratoma

Intradural extension of a sacrococcygeal teratoma (SCT) is extremely rare and only well-documented in presacral tumors that have been associated with a familial history, anorectal stenosis, and sacral dysraphism. This case documents the extension of a type I SCT into the dural sac with attachment to the filum terminale. A full-term female was transferred to our tertiary newborn intensive care unit with a sacral mass measuring 12 × 13 cm. It protruded from the buttocks and displaced the anus anteriorly. Rectal examination showed no presacral component. Radiographs demonstrated calcification in the soft tissue mass and a normalappearing sacrum with the last sacral segment not visualized. At operation during dissection of the cephalad component, the SCT extended into the spinal canal. Neurosurgical consultation resulted in a sacral laminectomy which revealed the tumor to be attached to the tip of the filum terminale. The tumor was removed in toto with all sacral roots preserved. The infant required a second operation to revise a wound dehiscence and suspected cerebrospinal fluid leak. The final pathology report was benign SCT. Follow-up at 2 years showed no recurrence, normal sphincter tone, and a normal computed tomography scan. This represents the first well-documented intradural extension of a Type I SCT with attachment to the spinal cord. This extremely rare occurrence requires awareness with the availability of neurosurgical support to expedite operative management.