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Genital hair infants

Eric Feinstein, Aisha S Traish, Vinay Aakalu, Iris S Kassem
We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes...
September 2015: Case Reports in Ophthalmology
Sara M Sarasua, Alka Dwivedi, Luigi Boccuto, Chin-Fu Chen, Julia L Sharp, Jonathan D Rollins, Julianne S Collins, R Curtis Rogers, Katy Phelan, Barbara R DuPont
PURPOSE: Phelan-McDermid syndrome is a developmental disability syndrome with varying deletions of 22q13 and varying clinical severity. We tested the hypothesis that, in addition to loss of the telomeric gene SHANK3, specific genomic regions within 22q13 are associated with important clinical features. METHODS: We used a customized oligo array comparative genomic hybridization of 22q12.3-terminus to obtain deletion breakpoints in a cohort of 70 patients with terminal 22q13 deletions...
April 2014: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Danielle Nelson, Josephine Ho, Danièle Pacaud, David Stephure
Androgen replacement therapy for male hypogonadism may be prescribed utilizing intramuscular, oral or more recently, topical formulations. With topical formulations, there is a risk of person-to-person transmission if appropriate precautions are not taken. We describe two cases of virilization in pre-pubertal children following passive transfer of paternal topical testosterone. A 21 month old male was referred with a 6 week history of pubic hair, phallic growth, and linear growth spurt. Genital examination revealed Tanner stage 2 pubic hair and Tanner stage 3 phallic development, which was discordant with the pre-pubertal testicular size (2 mL bilaterally)...
2013: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yunsur Cevik, Cemil Kavalci
The hair tourniquet syndrome is a rare disorder. This syndrome has been described as involving the fingers, the toes and even the genitals. We report a case of hair tourniquet syndrome affecting multiple toes of an infant. After the hair fiber was removed there was a fast healing period and no signs of tissue necrosis were seen. The prompt diagnosis and treatment of the condition is vital to attain a good outcome and prevent further harm to the child.
September 2010: Annals of Saudi Medicine
I Claudet, N Pasian, C Maréchal, S Salanne, C Debuisson, E Grouteau
OBJECTIVE: Describe the epidemiology of tourniquet syndromes and a cohort of such children admitted to the pediatric emergency department (PED), analyze the family's social situation to detect neglect behaviors, and analyze subsequent hospital admissions. PATIENT AND METHODS: From 1st January 2003 to 31st May 2009 in the PED, all patients admitted for tourniquet syndrome were included in the study. The data collected were day and time of admission, age, sex, length of stay, medical coverage, type and location of the constrictive agent, therapeutic management, progression, and complications...
May 2010: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Paul Kaplowitz, Steven J Soldin
BACKGROUND: In recent years, an increasing number of infants have been seen with fine hair in the genital area and no other signs of androgen excess, but the hormonal basis of this finding is unknown. AIM: To compare steroid profiles in infants with genital hair with age-matched control infants, using liquid chromatography-tandem mass spectrometry (LC-TMS) to measure eight steroids (cortisol, 11-deoxycortisol, progesterone, 17-hydroxyprogesterone, testosterone, androstenedione, DHEA, and DHEA-S)...
May 2007: Journal of Pediatric Endocrinology & Metabolism: JPEM
Brian Alverson
The hair tourniquet is a well-described phenomenon. Typically, a hair or filament becomes tightly wrapped around an appendage, thereby causing swelling, pain, and, in extreme cases, necrosis. Affected areas include fingers, toes, and the genitalia. A case of a 9-year-old girl with a clitoral hair tourniquet is described, and a review of the literature of genital tourniquets in females is presented, with a discussion about potential etiology. The hair-thread tourniquet syndrome is a disease in which a hair or filament becomes wrapped around an end-perfusion appendage, thereby limiting adequate venous and lymphatic drainage of that tissue...
March 2007: Pediatric Emergency Care
A M Kajbafzadeh, M Baharnoori
Fetus in fetu (FIF) is a very rare condition, with a reported incidence of one in 500,000 live births. It most likely represents a monozygotic diamniotic twin that implants itself and grows within the body of its normal karyotypically identical sibling, which typically manifests as a fetiform abdominal mass in a newborn or infant. The mass is located in the retroperitoneum in most cases, including our example, and is commonly surrounded by encapsulated fluid. However, FIF has been reported to occur in other locations, such as within the cranium, the scrotum, and the oral cavity...
October 2006: Canadian Journal of Urology
Anastasios Papadimitriou, Despina Beri, Polyxeni Nicolaidou
Nine male infants who developed scrotal hair with no other signs of virilization were evaluated. Median age for the development of scrotal hair was 4.5 months, and median age at presentation was 7.5 months. Endocrinologic investigations performed in 6 of the infants yielded normal findings. The scrotal hair receded at a mean age of 12 months, suggesting a transient benign event. The development of genital hair in boys under age 9 years is considered precocious, suggesting a possible pathological condition (eg, precocious puberty, congenital adrenal hyperplasia, adrenal or genital tumors), or may be due to premature adrenarche...
May 2006: Journal of Pediatrics
C Schwemmle, B Schulze, M Ptok
INTRODUCTION: The interstitial deletion of chromosome 1q is a disease of rare incidence, which might be hereditary or caused by spontaneous changes within the chromosome respectively. The phenotype in most cases is based on the loss of macrochromosomal material within the long arm of chromosome 1. The characteristics of this syndrome include pre- and postnatal growth retardation, severe psychomotor retardation, microbrachycephaly, sparse fine scalp hair and eyebrows, deformity of skull with cleft of lips and palate, scoliosis, small hands and feet hernias, genital defects, clinodactyly of the fifth fingers and campylodactyly...
April 2006: Laryngo- Rhino- Otologie
Anne Klusmann, Hans-Gerd Lenard
UNLABELLED: The tourniquet syndrome describes severe strangulations of appendages by hair, cotton or similar material mainly observed in young infants. The painful swellings of digits or external genitals are surgical emergencies because the strangulation can cause ischaemia and tissue necrosis. More than 100 cases of the tourniquet syndrome have been reported in most of which the aetiology was unclear. We have treated five patients with a tourniquet syndrome. Four of them presented with strangulations of one or more toes by hair or threads and one girl was diagnosed with a clitoral tourniquet syndrome...
August 2004: European Journal of Pediatrics
Yoko Fujimoto, Torayuki Okuyama, Makoto Iijima, Toshiaki Tanaka, Reiko Horikawa, Koichiro Yamada, Tsutomu Ogata
Although testicular development has been shown to be variably impaired in XY patients with distal 9p monosomy, ovarian and other genitourinary phenotype has poorly been studied in XX patients monosomic for the distal 9p region. Thus, we studied a 13-month-old infant with 46,XX,der(9)t(9;10)(p23;p13) (case 1) and an 11-year-old girl with 46,XX,der(9)t(9;16)(p23;q22) (case 2). Case 1 had primary hypogonadism (basal serum follicle stimulating hormone [FSH], 40.0 mIU/mL; leteinizing hormone [LH], 1.2 mIU/mL; estradiol [E2], <10 pg/mL), whereas case 2 had age-appropriate pubertal development (breast, Tanner stage 4; pubic hair, Tanner stage 3; menarche 11...
June 2004: Molecular Genetics and Metabolism
C C Luo, J N Lin, C H Chiu, F S Lo
Surgical correction of genital defects was formerly proposed when the size of the penis was sufficient to permit easy surgical repair. To enlarge penile size, temporary stimulation with testosterone or dihydrotestosterone cream has been used; however, the results were not only inconsistent, but absorption was also variable. We report our experience with parenteral testosterone as an adjunct to reconstructive genital surgery in 25 patients aged 6-18 months from July 1999 to December 2000, including 8 with penile hypospadias, 15 with penoscrotal hypospadias, and 2 with perineal hypospadias...
April 2003: Pediatric Surgery International
A L Boehmer, O Brinkmann, H Brüggenwirth, C van Assendelft, B J Otten, M C Verleun-Mooijman, M F Niermeijer, H G Brunner, C W Rouwé, J J Waelkens, W Oostdijk, W J Kleijer, T H van der Kwast, M A de Vroede, S L Drop
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains of the AR. The commonly accepted concept of dependence on fetal androgens of the development of Wolffian ducts was studied in complete androgen insensitivity syndrome (CAIS) patients...
September 2001: Journal of Clinical Endocrinology and Metabolism
C W Christian, J M Lavelle, A R De Jong, J Loiselle, L Brenner, M Joffe
OBJECTIVE: The American Academy of Pediatrics recommends forensic evidence collection when sexual abuse has occurred within 72 hours, or when there is bleeding or acute injury. It is not known whether these recommendations are appropriate for prepubertal children, because few data exist regarding the utility of forensic evidence collection in cases of child sexual assault. This study describes the epidemiology of forensic evidence findings in prepubertal victims of sexual assault. METHODS: The medical records of 273 children <10 years old who were evaluated in hospital emergency departments in Philadelphia, Pennsylvania, and had forensic evidence processed by the Philadelphia Police Criminalistics Laboratory were retrospectively reviewed for history, physical examination findings, forensic evidence collection, and forensic results...
July 2000: Pediatrics
M J Nowaczyk, T L Sutcliffe
We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance...
November 5, 1999: American Journal of Medical Genetics
G E Dickey, C Sotelo-Avila
This review examines 197 cases of fibrous hamartoma of infancy (FHI) described in the literature and provides a detailed clinicopathologic analysis of what is known to date of this peculiar lesion of the subcutis and lower dermis. The vast majority of these cases occurred within the first year of life (91%). Twenty-three percent were congenital. There was a predilection for boys with a male/female ratio of 2.4. Males and females had similar anatomic distribution with the most common locations being the axillary region, upper arm, upper trunk, inguinal region, and external genital area...
May 1999: Pediatric and Developmental Pathology
S F Witchel, R Smith, M Suda-Hartman
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal recessive disorder (MIM# 201910) due to mutations in the 21-hydroxylase (CYP21) gene (GDB Accession # M12792). Using our protocol for single strand conformational polymorphism (SSCP) analysis, we have identified two mutations not known to exist in the 21-hydroxylase pseudogene (CYP21P). One mutation involving codon 169, TGC to AC appears to be novel. The 46,XX patient carried the codon 169 mutation on her paternal allele and a large gene deletion/conversion event on her maternal allele...
1999: Human Mutation
M L Martínez-Frías, E Bermejo, V Félix, N Jiménez, J Gómez-Ullate, J A López, P Aparicio, A Ayala, J M Gairi, E Galán, M E Suárez, A Peñas, J M de Tapia, C Nieto, E de la Serna
INTRODUCTION: We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population. PATIENTS AND METHODS: In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996. RESULTS: The minimum estimation of the prevalence in our population is 0...
March 1998: Anales Españoles de Pediatría
M B Leonard, B S Zemel, D A Kawchak, K Ohene-Frempong, V A Stallings
OBJECTIVE: The objective of this study was to determine the relation of plasma zinc (Zn) status to growth and maturation in children with SS genotype sickle cell disease. STUDY DESIGN: A cross-sectional study of 104 subjects who were 50% female and ranged in age from 0.4 to 18 years was performed. Measures included plasma Zn concentration (Znp), height, weight, skinfold thicknesses, elbow breadth, upper arm muscle area, and fat-free mass and fat mass by total body electrical conductivity...
March 1998: Journal of Pediatrics
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