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Objective To evaluate the outcomes of neonatal circumcision performed by a PA in pediatric urology. Methods A retrospective review was performed of infants evaluated for neonatal circumcision by a single PA in pediatric urology over 30 months. Technique, age and weight at circumcision, presence or absence of genital anomalies, and complications were gathered. Results Of the 371 male infants evaluated for neonatal circumcision, 276 underwent the procedure. Complications included retained Plastibell (2.1%), penile adhesions (1.1%), swelling (1.8%), and cosmetic concerns (0.73%). Eighteen unanticipated postprocedure visits occurred-four in the ED and 14 in the outpatient clinic. No acute procedural complications occurred. One patient (0.3%) underwent lysis of penile adhesions at age 19 months. Conclusion Neonatal circumcisions are commonly performed by nonsurgeons with variable formal circumcision training. These data support that well-trained PAs can perform neonatal circumcisions with low complication rates.

The etiology of hypospadias and cryptorchidism, which are the two most common genital anomalies in males, has not been elucidated. Although prenatal exposure to endocrine-disrupting chemicals (EDCs) may increase the risks of hypospadias and cryptorchidism, the associations have not been confirmed. Therefore, we performed a meta-analysis to establish the relationships between prenatal exposure to EDCs and male genital anomalies. A systematic search of PubMed, EMbase, and Cochrane Library CENTRAL for relevant published studies providing quantitative data on the associations between prenatal EDCs exposure and hypospadias/cryptorchidism in humans was conducted. In total, sixteen case-controlled studies were included. Prenatal exposure to overall EDCs was associated with an increased risk of hypospadias in males (OR, 1.34, 95 % CI 1.12 to 1.60). Although there was no statistically significant association between overall EDCs exposure and cryptorchidism (OR, 1.11, 95 % CI 0.99 to 1.24), exposure to phenol substances was associated with an increased risk of cryptorchidism (OR, 1.81, 95 % CI, 1.12 to 2.93). Using the GRADE tool, we found the overall evidence to be of moderate certainty. In conclusion, the current evidence suggests prenatal EDCs exposure may increase the risk of hypospadias in males.

Background: There are a growing number of reports on the association between air pollution and the risk of congenital anomalies. However, the results are inconsistent and most studies have only focused on the association of air pollution with congenital heart defects and orofacial clefts.Objectives: Using an exploratory study design, we aimed to identify congenital anomalies that may be sensitive to maternal exposure to specific air pollutants during the periconceptional period.Methods: We conducted a case-control study of 7426 subjects born in the 15 years between 1999 and 2014 and registered in the European Registration of Congenital Anomalies and Twins Northern Netherlands (EUROCAT NNL). Concentrations of various air pollutants (PM10, PM2.5, PM10-2.5, NO2, NOx, absorbance) were obtained using land use regression models from the European Study of Cohorts for Air Pollution Effects (ESCAPE). We linked these data to every subject in the EUROCAT NNL registry via their full postal code. Cases were classified as children or fetuses born in the 15-year period with a major congenital anomaly that was not associated with a known monogenic or chromosomal anomaly. Cases were divided into anomaly subgroups and compared with two different control groups: control group 1 comprised children or fetuses with a known monogenic or chromosomal anomaly, while control group 2 comprised all other non-monogenic and non-chromosomal registrations.Results: Using control group 1 (n = 1618) for analysis, we did not find any significant associations, but when we used control group 2 (ranges between n = 4299 and n = 5771) there were consistent positive associations between several air pollutants (NO2, PM2.5, PM10-2.5, absorbance) and the genital anomalies subgroup.Conclusion: We examined various congenital anomalies and their possible associations with a number of air pollutants in order to generate hypotheses for future research. We found that air pollution exposure was positively associated with genital anomalies, mainly driven by hypospadias. These results broaden the evidence of associations between air pollution exposure during gestation and congenital anomalies in the child. They warrant further research, which should also focus on possible underlying mechanisms.

Cloacal exstrophy is the most severe form of the exstrophy-epispadias complex, occurring in approximately 1 of every 200,000 to 400,000 live births. Variant such as covered cloacal exstrophy presentations are only one-tenth as common. Although exstrophy-epispadias complexes include genital anomalies, intravesical phallus is very rare. We report an extremely rare case of intravesical phallus with covered cloacal exstrophy that was successfully treated by phallic mobilization.

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty—a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

Pontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. (C) 2016 Wiley Periodicals, Inc. Türkiye Bilimsel Ve Teknolojik Araştırma Kurumu ( Tübitak )

Studies estimate that the incidence of genital anomalies could be as high as 1 in 300 births. While it is rare for an infant to present with truly ambiguous genitalia, it is plausible that the pediatric nurse will encounter a patient with disorders of sexual development in his or her career. Cases of disorders of sexual development are challenging due to complexities of diagnosis, gender assignment, uncertain outcomes, treatment options, and psychosocial stressors. This article discusses the evaluation and management of children with disorders of sexual development and the nurse's role as child advocate and family educator.

Context:\ud The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.\ud Objective:\ud To report the range of associated conditions identified in the international DSD (I-DSD) Registry.\ud Design, Setting, and Patients:\ud Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.\ud Results:\ud Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.\ud Conclusions:\ud Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.

Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand.The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed.Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females.Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

The examination of the newborn is one of the most common yet crucial tasks performed by the pediatrician. The initial hospital visit (immediately after the birth), with the confirmation that an infant is healthy, often sets the tone for the future relationship between the physician and the family. Many routine visits during the first few years also find the parents looking for the same reassurance from their doctor. However, when there is concern for the health of the newborn, toddler, or young child, the physician must balance appropriate medical intervention with words of comfort and consolation. This article delineates the need for when more immediate attention is warranted from those situations where watchful waiting can be advised, with specific attention to the male genitalia of the prepubertal boy. [ Pediatr Ann . 2016;45(9):e311–e313.]

Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children?s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients); II - genital anomalies (164 patients); III - testicular anomalies (76 patients) and IV - associated anomalies (60 patients). We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7?4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3?1.9 days) (p

The present stud- was conducted to evaluate the usefulness of dih-drotestosterone (DHT) binding assa- of skin fibroblasts for the differential diagnosis in infants of testicular feminization s-ndrome (TFS) from other disorders with genital anomalies. DHT binding was measured in the fibroblasts derived from the patients with intersex or genital anomalies such as TFS, incomplete TFS, pure gonadal agenesis, retentio testis, Klinefelter's s-ndrome, testicular d-sgenesis, adrenogenital s-ndrome, and Turner's s-ndrome. All patients except the TFS patients exhibited normal binding capacit- in fibroblasts from either genital or nongenital skins. The patients with TFS were 3 and 6 -ear-old siblings whose diagnosis had not been made completel- b- g-necological examination and routine laborator- tests, but the binding assa- contributed to making the exact diagnosis of these patients. DHT binding of skin fibroblasts from normal males and females was 11.5±8.6 (S. D.) fmoles/mg cell protein in nongenital skin, whereas the DHT binding assa- of these patients showed that the maximal number of binding sites was under 0.5 fmoles/mg cell protein. These results suggest that DHT binding assa- of skin fibroblasts is useful also for the prospective differential diagnosis of TFS in infant and prepubertal patients and that treatment for TFS might be planned from infanc-.

Objectives Many concerns have been raised regarding the treatment and long-term outcome of infants born with complex genital anomalies. Debate among clinicians, psychologists, ethicists, and patient advocate groups regarding the optimal management of these individuals is ongoing. Although determining the most appropriate gender is a difficult task, this review will help clarify some of the issues at hand. Methods A literature review which addresses the challenges of advising families about gender identity in infants and children with disorders of sex development. Results The evidence for endocrine effects on neurobiological development with regard to sexual behavior is compelling, although the existing outcome studies are largely anecdotal and somewhat contradictory. Conclusions Gender assignment in infants born with a disorder of sex development remains only one of the many difficult decisions faced by both the treatment team and the family. Improved long-term follow-up of these patients will provide much needed feedback on previous and contemporary management.

The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient has a large congenital diaphragmatic hernia, as was described in one other patient with a 15q24 microdeletion, indicating that this feature might be part of the syndrome. Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome.

Both Aarskog syndrome and atraumatic anterior hip dislocation are rare entities. Aarskog syndrome is an X-linked recessive disorder with facial, digital, and genital anomalies and is associated with varying degrees of ligamentous laxity. This is believed to be the only known reported case of bilateral anterior voluntary dislocating hips in an ambulatory child and the only reported case of hip dislocation in a child with Aarskog syndrome. Staged bilateral varus derotational femoral osteotomies and Dega osteotomies were successfully performed. Hardware was removed 1 year after the second operation. The patient has been asymptomatic at 2 years' follow-up. This article calls attention to the features of Aarskog syndrome and potential orthopaedic concerns.

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X-linked recessive or autosomal dominant, with limited expression in the female.

Background: There is scarce information on how parents cope with children with genital anomalies. Participants & methods: Twenty-six parents of 25 children with a median age of 0.5 years (r, 5 days‐ 10.8 years) were recruited through the Scottish Genital Anomaly Network and had a quantitative assessment of parenting stress and coping patterns; a qualitative assessment by a semi-structured interview was also performed in19 parents. Results: In five parents, the total stress score was above the 85th centile, denoting clinical levels of stress. Three parents showed reduced coping pattern scores for social support, self-esteem and psychological stability and three showed a reduction in utilization of communication with medical professionals. The scores did not correlate with each other or the extent of genital anomaly in the child. Semi-structured interview analysis revealed parents’ need for more knowledge about the imminent surgery, post-operative care and their desire for written information that could complement the time-restricted contact with the clinical team. Conclusion: In the majority of cases, parents did not display abnormal levels of stress or coping on quantitative assessment. The semi-structured interview provided further information about the parents’ level of coping and potential for stress and highlighted the need for more effective exchange of clinical information at a critical period of the parent‐child relationship.

In the last decade, significant progress in the knowledge and management of external genital anomalies has been achieved, including an improved understanding of epidemiology and pathophysiology of these anomalies, the identification of etiologic genetic defects, and significant improvements in surgical approaches that have decreased complications and improved cosmetic outcomes. We highlight the most clinically important advances of the commonly encountered external genital anomalies.

Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations.

Objective To describe a new technique to preserve the penile epithelium with good cosmetic results when additional surgery is a significant possibility. Complex genital reconstruction can require multiple procedures. Methods Seven patients underwent grafting of the penile epithelium to the scrotum during genital reconstruction to bank the tissue for potential future use. The graft size was 8-40 mm in the maximal length. Results The median age at surgery was 8.1 months. The median interval to the last follow-up examination after surgery was 13.5 months. All 7 patients demonstrated excellent wound healing with good cosmetic results. Conclusion In patients with complex genital anomalies, nonhair-bearing epithelium is a valuable asset. At times, the paucity of available local tissue necessitates autografting with nongenital epithelium. The need for nongenital tissue can be reduced if excess penile skin is banked for potential use at a later date. We describe a technique in which the penile skin is preserved for potential future reconstruction using free grafting to the scrotum.

Polyorchidism is a rare congenital anomaly. A review of literature has yielded about 100 cases. We describe a rarer case of polyorchidism consisting of 3 testes on left hemiscrotum and one normal testis in right hemiscrotum. Diagnosis and management are discussed.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Background Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. Methods This study consisted of six karyotypic males (cases 1 through 6) and four karyotypic females (cases 7 through 10) with 10q26 monosomy. Cases 3 through 5 and 7 through 10 had urinary anomalies such as vesicoureteral reflux and hypoplastic kidney, and cases 1 through 6, 8, and 9 exhibited genital anomalies such as micropenis, hypospadias, cryptorchidism, and hypoplastic labia majora. Fluorescence in situ hybridization (FISH) for 10q telomere, whole chromosome 10 painting, and microsatellite analysis for 35 loci on distal 10q were performed in cases 1 through 8. Results FISH and whole chromosome painting confirmed distal 10q monosomy in cases 1 through 8. Microsatellite analysis revealed that hemizygosity for the region distal to D10S186 was shared by cases with urinary anomalies and that for the region distal to D10S1248 was common to cases with genital anomalies. Furthermore, it was indicated that PAX2, GFRA1, and EMX2 on distal 10q, in which the deletions could affect urinary and/or genital development, were present in two copies in cases 1 through 8. Conclusions The results suggest that a novel gene(s) for urinary development and that for genital development reside in the approximately 20cm region distal to D10S186 and in the approximately 10cm region distal to D10S1248, respectively, although it remains to be determined whether the two types of genes are identical or different.

An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.

Phthalates are part of a class of high-volume industrial chemicals used ubiquitously in health care as well as household products. Biomarker studies have confirmed the widespread presence of these chemicals in both humans and animals. As a class, phthalates have been implicated in diseases and birth anomalies of the genitourinary tract including hypospadias, testis anomalies, and subfertility. This article will discuss the current data surrounding these chemicals and their association with genital anomalies including genital anomalies and infertility.

Acro-cardio-facial syndrome (ACFS) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and congenital heart defect (CHD), along with cleft lip and palate, genital anomalies, unusual face and intellectual disability. An autosomal recessive pattern of inheritance has been suggested because of affected sibs born to unaffected parents and parental consanguinity; the cause is unknown. We describe a newborn with the clinical manifestations of ACFS in whom a deletion of the region 6q21-q22.3 was detected by array CGH. We compare the clinical features of the present patient with earlier reported patients with similar 6q deletions and patients diagnosed with ACFS. The similarities between these patient groups suggest that ACFS may be a microdeletion syndrome caused by loss of the 6q21-22.3 region. The recurrence in families may be explained by prenatal germline mosaicism. Alternatively, ACFS may be a genetically heterogeneous disorder which can also be caused by biallelic mutations of an autosomal recessive gene.

Multiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and widespread musculoskeletal deformities. Pterygia are the predominant hallmark of the syndrome. Five children with multiple pterygium syndrome were treated from 1978 to 1987. Treatment involved both upper and lower pterygia and contractures. The results of treatment and modalities used are discussed and a protocol suggested.

Background/Aims: Klinefelter’s syndrome is characterized by progressive testicular failure causing aspermatogenesis and androgen deficiency. Klinefelter patients classically have complete male sex differentiation, and genital anomalies are generally not recognized as associated features of the syndrome. Methods: We reviewed the cases of Klinefelter’s syndrome with genitalia abnormalities from the Cambridge Disorders of Sex Development Database, and also reviewed previous case reports of genital anomalies associated with Klinefelter’s syndrome and its variants. Results: We present seven Klinefelter patients with abnormalities of the genitalia, ranging from mild anomalies (chordee) to moderate undervirilisation (bifid scrotum and perineal hypospadias). Two cases were true hermaphrodites with karyotypes 47,XXY and 47,XXY/46,XX respectively. Though androgen insensitivity has been postulated previously as a possible pathogenic mechanism, we demonstrated normal androgen binding in 3 cases in which this was studied. Review of other case reports revealed a range of mild-to-severe abnormalities as well as cases reported as sex reversal, testicular feminization, and true hermaphroditism. Conclusion: Genital anomalies are not commonly observed in Klinefelter’s syndrome. However, it is important to acknowledge the association, and recognize Klinefelter’s syndrome as one of the causes of abnormal genitalia at birth.

Pfeiffer-type cardiocranial syndrome (MIM 218450) was first delineated in 1987; several further patients have been reported confirming this as a distinct nosological entity. The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. Telomere studies on blood and skin samples identified a de novo unbalanced rearrangement resulting in partial monosomy for 1p36.1 to pter and partial trisomy for 17q25.1 to qter. This case provides the first insight into the possible aetiology of this condition.

A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-- >q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46, XY, ins (6 ; 4) (q26 ; q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

Partial trisomy of the long arm of chromosome 10 is a well-defined but rare syndrome. Clinical features of this chromosomopathy are a distinctive dysmorphic appearance, developmental delay, growth retardation, and in some cases, abnormalities of the extremities and renal, cardiac and ocular anomalies. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom chromosomal analysis revealed a partial trisomy of chromosome 10q with a monosomy of the 13q34 region. The phenotype shares many common features with previously published cases. In addition to the typical features, our case also shows renal hypoplasia with early renal insufficiency and some genital anomalies.

We present a 1 month-old infant with Robinow syndrome and large inguinal hernia, undescended testes and micropenis mimicking penile agenesis. Genital anomalies are common in Robinow syndrome. The ambiguous genitalia appearance may lead to confusion in gender assignment.

Objectives This is a report of five cases of abnormal fetal genitalia detected by routine prenatal ultrasound. Methods Retrospective review was conducted to identify all cases of abnormal fetal genitalia identified by routine obstetrical ultrasound at our institution in which postpartum follow-up was available. Results Five cases of prenatal sonographically diagnosed abnormal fetal genitalia were confirmed postnatally. The abnormalities include ambiguous genitalia, severe hypospadias with unilateral cryptorchidism, megalourethra, and concealed penis. In all cases, other anomalies were discovered during the prenatal ultrasound. Conclusions Prenatal ultrasound may detect a variety of abnormalities of the fetal genitalia.

The WAGR syndrome (Wilms' tumour, aniridia, genital anomalies, and mental retardation) is well documented to be associated with a deletion of 11p13. We present a patient with a del(11)(p11.2p14.2) who as well as all the features of WAGR syndrome has multiple exostoses. We suggest that this could be a possible locus for hereditary multiple exostoses.

A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.

The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases.

Patients with a sex chromosome complement of XYY in whom the physical findings vary from apparent normal maleness, to genital anomalies, mental defect, and criminal tendencies have been described by several authors. The one common feature in the adult cases has been tallness. We here report an adult male with an XYY complement who, in addition to mental defect, hypogonadism, and increased height showed interesting orthopaedic abnormalities.

An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

Magnetic resonance imaging, a new radiographic modality that is not dependent on ionizing radiation or intravenous contrast agents, was used to identify undescended testes in 11 patients. Of 14 undescended testes 13 were identified and the only testis that was not seen was in a patient with surgically proved unilateral anorchism. We also used magnetic resonance imaging in 9 patients with various types of intersex. The anatomy of the corpora cavernosa, vagina, uterus and gonads was well seen in each instance.

A familial syndrome of short stature associated with facial dysplasia and congenital anomalies was reported by Aarskog in 1970. 1 Subsequently, at least 53 patients in 13 affected families have been reported. 2–5 The family to be described came under investigation following referral of one of the nine siblings to the surgical clinic at Childrens Hospital of Los Angeles for the evaluation of a right inguinal hernia. Recognition of the syndrome and further evaluation of the remaining siblings led to the diagnosis of several genital anomalies requiring surgical correction.

Between 1973-1982, the Hungarian Congenital Malformation Registry recorded 165 male index patients with two or more genital anomalies of the male (GAM) without other abnormalities. Of 17 'severe' GAM cases with penile or perineal hypospadias and other anomalies of external genitalia, clinical examination detected a recognizable syndrome in all but one case. A family study of 70 'mild' GAM cases with coronal or glandular hypospadias, undescended testes, and congenital inguinal hernia with or without minor genital anomalies, showed that 8.7% of index patients had fathers and brothers with GAM-type anomalies. The mild GAM cases seem to be a monotopic developmental field defect, the so-called GAM-complex.

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.

Penile surgery in children may have wide-ranging and long-lasting emotional effects, both in patient and in parent. Thus, the optimal time for hypospadias repair is in the baby's first year. Unless there are coexisting genital anomalies, single-stage corrections can be done, with expectation of excellent results—in almost all infants with hypospadias.

Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, eleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with other populations, whereas the rates of multiple births and limb anomalies were lower.