Malformation Of External Genitalia Research Articles

Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases

Objective: To investigate the clinicopathological features of gonadal neoplastic related lesions in children with disorders of sexual development (DsD). Methods: The clinical manifestations, chromosomal karyotype, histology and immunophenotype of 12 cases of neoplastic related lesions from Guangzhou Women and Children's Medical Center, Guangzhou were analyzed during Jan 2015 to May 2020. Results: Twelve cases of neoplastic related lesions were screened in 205 cases of DsD, and 6 patients with gonadal germ cell neoplasia aged 3-13 years with an average age of 8.3 years. There were 2 males and 4 females. Clinical features showed malformation of external genitalia in 2 cases, short stature in 2 cases, clitoral enlargement in 1 case, lower abdominal pain and a huge pelvic mass in 1 case. Chromosomal karyotyping of peripheral blood showed 2 cases of 46XY and 4 cases of 45X/46XY. Fourteen gonadal specimens were examined. Microscopically, 1 case showed dysgerminoma in left ovary, and malignant mixed germ cell tumors in right ovary, as well as gonadoblastoma (GB) and undifferentiated gonadal tissue (UGT). The remaining 5 cases were all precursor lesions of germ cell tumor. Six specimens showed GB, 3 of UGT, and 3 specimens showed germ cell neoplasia in situ (GCNIS), one of which was accompanied by intratubular seminoma and 1 was GB with GCNIS. The other 6 patients with DsD were aged from 8 months to 2 years and 5 months, including 5 males and 1 females. Clinical manifestations showed 5 cases of hypospadias and 1 case of bilateral indirect inguinal hernia. Microscopically, 6 cases showed maturation delay of gonocytes in seminiferous tubules. Immunohistochemically, the primordial germ cells/gonocytes expressed OCT3/4, PLAP and c-KIT in the 12 cases. Conclusion: Gonadal neoplasia in children with DsD is mainly precursor lesions of germ cell tumor and improved understanding of these lesions is of great significance.

PELVIS Syndrome: A Case Report

Objective − PELVIS syndrome is an association between large perineal hemangiomas and congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. We present a 7-year-old boy with PELVIS syndrome. Case report − . The boy had been monitored since early intrauterine age by ultrasound (US) due to left kidney cysts. Clinical examination at birth found large segmental hemangiomas in the perineal, gluteal region, and the left leg. At the age of 4 weeks US showed a multicystic, dysplastic left kidney with compensatory hypertrophy of the right kidney. Voiding cystography (VCUG) did not show vesicoureteral reflux and morphology of the bladder, and the urethra was normal. PELVIS syndrome was suspected and the child underwent further diagnostic tests which showed: undescended left testis with a hypoplastic left scrotum and micropenis, right-sided angulation of the sacrum and closed spinal dysraphism from S1 to S5, with lipoma of the filum terminale, without tethering. The urodynamics investigation was normal. During the seven-year follow-up there was spontaneous regression of the left kidney cysts; the growth and function of the right kidney was normal, as was also sphincter control. There was significant spontaneous regression of the hemangiomas. Follow-up magnetic resonance imaging (MRI) of the lumbosacral spine showed no progression of the lipoma. Conclusion − Large perineal hemangiomas should be recognized as indicators of underlying congenital anomalies, including urogenital, anorectal and spinal. Therefore, additional diagnostic evaluation, including kidney ultrasound and spine imaging, are necessary.

The case of prenatal diagnosis of the bladder extrophy associated with external genitalia malformations

The case of the urinary bladder extrophy associated with malformations of the external genitalia is presented. The defect was diagnosed at 21–22 weeks of gestation on the basis of absence of the bladder echo-shadow and low attachment of umbilical cord to the anterior abdominal wall. There was also noted indeterminated gender.

Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome.

BackgroundPELVIS is an acronym defining the association of perineal hemangioma, malformations of external genitalia, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag. Eleven cases have been reported according to the Orphanet data. Acronyms of LUMBAR and SACRAL syndrome have been used and most probably represent a spectrum of the same entity. Very little is known about the success and timing of cloacal reconstruction after the treatment of hemangioma. We present a variant of PELVIS syndrome and discuss the possibilities and optimal timing of surgical reconstruction.Case presentationFemale infant was born with persistent cloaca and multiple hemangiomas of genitals, perineal area and left thigh. Colostomy was performed after birth. In order to treat hemangioma and to make the reconstruction of cloaca possible, corticosteroid treatment orally and multiple laser treatments were performed alternating Nd:YAG laser and pulsed dye laser therapy. Cystoscopy confirmed hemangiomatosis in the mucosa of the common channel, bladder neck and septate vagina. Oral propranolol treatment was started at the age of 18 months and continued for 1 year. It induced rapid improvement of hemangiomas. Two more pulsed dye laser treatments were performed to remove residuals of hemangiomas from the perineum and genital area. Posterior sagital reconstruction by separation of the rectum, mobilization of urogenital sinus and vaginal reconstruction was performed with no major bleeding at the age of 4 years. Postoperatively, after a period of progressive rectal dilatation colostomy was closed. Girl is now 6 years old, dry day and night without residual urine and normal upper tracts. Rectal calibration is normal, fecal continence is still to be evaluated but constipation is easily manageable. CT of the spine and the perineum showed sacral dysplasia and spina bifida with lumbo-sacral lipoma and tethering of terminal filum without neurological deterioration at the moment but requiring close neurological monitoring.ConclusionsLarge perineal hemangiomas are commonly associated with extracutaneous abnormalities. Successful reconstructive surgery is possible after significant reduction of hemangioma by complex treatment.

Reticular infantile hemangiomas with minimal or arrested growth associated with lipoatrophy

Reticular infantile hemangioma (RIH) with minimal or arrested growth (MAG) is an underrecognized variant of infantile hemangioma (IH). We describe a new clinical subtype of RIH-MAG associated with lipoatrophy. The medical charts and serial clinical photographs and imaging studies of 53 children given a diagnosis between 2004 and 2013 labeled as "abortive," "minimal or arrested growth," "reticular," or "congenital" hemangiomas were reviewed in the departments of dermatology and infantile plastic surgery of 2 French university hospital centers. Seven children were identified with RIH-MAG associated with lipoatrophy. There were 3 main patterns: (1) a focal cutaneous depression; (2) semicircular lipoatrophy with a horizontal bandlike depression; and (3) segmental soft-tissue atrophy. One case of segmental RIH-MAG of the back of the foot was associated with genital abnormalities reminiscent of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tags (PELVIS) syndrome. The limitations were the retrospective study design, the small number of cases, and selection bias based on recall and photography. RIH-MAG with lipoatrophy is an uncommon variant of IH that may be confused with other vascular anomalies, particularly capillary malformation, focal and atrophic cutis marmorata congenita telangiectatica, and rapidly involuting congenital hemangioma with lipoatrophy as a sequela.

Summary of surgical experience of 14 cases hermaphroditism

Objective To evaluate the surgical therapy for hermaphrodites.Methods Retrospective analysis the clinical data of 14 cases of different types of hermaphrodites treated in our hospital from Jan.1995 to Dec.2012,including 4 cases of female pseudohermaphrodite,2 cases of male sex reversal syndrome,3 cases of male pseudohermaphrodite and 5 cases of true hermaphrodites.The gender selection and the following surgical treatment were provided according to patients' protopathy,age,social gender,their desires and their parents' wishes.Results Out of 14 cases,10 cases were operated to women (4 cases of female pseudohermaphrodite,1 case of male pseudohermaphrodite,5 cases of true hermaphrodites),4 patients were operated to men (2 cases of male sex reversal syndrome,2 cases of male pseudohermaphrodite).The operation is relatively easy for the patients who are operated to female,and they all have well developed secondary sexual characteristics and satisfied sexual function after 3 to l0 years of follow-up.For the 4 patients who were operated to male,their penis and testicles are well developed,and 1 case had already entered adolescent period,whose morning erection can be seen normally but no spermatorrhea detected.Further observation is necessary to decide whether he has reproductive function.Conclusions The diagnosis and treatment for children external genitalia malformations should be taken as early as possible.A reasonable choice of gender,the appropriate surgical correction,and hormone replacement therapy in some cases,are feasible treatment with satisfactory effect. Key words: Hermaphroditism; Surgical procedures, elective

Tissue-specific requirements of β-catenin in external genitalia development

External genitalia are body appendages specialized for internal fertilization. Their development can be divided into two phases, an early androgen-independent phase and a late androgen-dependent sexual differentiation phase. In the early phase, the embryonic anlage of external genitalia, the genital tubercle (GT), is morphologically identical in both sexes. Although congenital external genitalia malformations represent the second most common birth defect in humans, the genetic pathways governing early external genitalia development and urethra formation are poorly understood. Proper development of the GT requires coordinated outgrowth of the mesodermally derived mesenchyme and extension of the endodermal urethra within an ectodermal epithelial capsule. Here, we demonstrate that beta-catenin plays indispensable and distinct roles in each of the aforementioned three tissue layers in early androgen-independent GT development. WNT-beta-catenin signaling is required in the endodermal urethra to activate and maintain Fgf8 expression and direct GT outgrowth, as well as to maintain homeostasis of the urethra. Moreover, beta-catenin is required in the mesenchyme to promote cell proliferation. By contrast, beta-catenin is required in the ectoderm to maintain tissue integrity, possibly through cell-cell adhesion during GT outgrowth. The fact that both endodermal and ectodermal beta-catenin knockout animals develop severe hypospadias in both sexes raises the possibility that the deregulation of any of these functions can contribute to the etiology of congenital external genital defects in humans.

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

PELVIS Syndrome

Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings. Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.

Rise in Prevalence of Hypospadias

Editorial Comment: Paulozzi et al report a 2-fold increase in the prevalence rates of hypospadias in the United States from 1970 to 1993 from the Metropolitan Atlanta Congenital Defects Program (1968 to 1993) and the United States Birth Defects Monitoring Program (1970 to 1993). During this period the incidence of all types of hypospadias increased from 20.2 to 39.7/10,000 births (0.20 to 0.4040). The incidence of severe (penile, scrotal and perineal) hypospadias increased from 1.1 to between 2.7 and 5.5/10,000 births. The increase occurred at a rate of 1.4% per year among white and 5.7% per year among nonwhite patients. Similar increases have been reported from England and Wales,' Sweden,2 Denmark3 and Hungary. That more severe forms of hypospadias appear to be increasing more rapidly than minor forms refutes the argument that has been made that this apparent increase could represent increased reporting of minor cases of hypospadias. Hypospadias has been linked to increased maternal age at menarche, menstrual cycle irregularities, exogenous hormone use and, recently, exposure to pollutant^.^ Dolk argues that this apparent worldwide increase in hypospadias may be considered with other reports of decreasing sperm counts, and increases in prevalence of cryptorchidism, testicular cancer and breast cancer in women. If this association is valid, it may underscore the importance of the future study of the etiology of hypospadias and the effect of industrial pollutants. Douglas A. Canning, M.D. 1. Matlai, P. and B e d , V.: Trends in congenital malformations of external genitalia. Lancet, 1: 108, 1985. 2. W e n , B. and Winberg, J.: An epidemiological study of hypospadias in Sweden. Acta Paed. Scand.,

Rise in prevalence of hypospadias

Editorial Comment: Paulozzi et al report a 2-fold increase in the prevalence rates of hypospadias in the United States from 1970 to 1993 from the Metropolitan Atlanta Congenital Defects Program (1968 to 1993) and the United States Birth Defects Monitoring Program (1970 to 1993). During this period the incidence of all types of hypospadias increased from 20.2 to 39.7/10,000 births (0.20 to 0.4040). The incidence of severe (penile, scrotal and perineal) hypospadias increased from 1.1 to between 2.7 and 5.5/10,000 births. The increase occurred at a rate of 1.4% per year among white and 5.7% per year among nonwhite patients. Similar increases have been reported from England and Wales,' Sweden,2 Denmark3 and Hungary. That more severe forms of hypospadias appear to be increasing more rapidly than minor forms refutes the argument that has been made that this apparent increase could represent increased reporting of minor cases of hypospadias. Hypospadias has been linked to increased maternal age at menarche, menstrual cycle irregularities, exogenous hormone use and, recently, exposure to pollutant^.^ Dolk argues that this apparent worldwide increase in hypospadias may be considered with other reports of decreasing sperm counts, and increases in prevalence of cryptorchidism, testicular cancer and breast cancer in women. If this association is valid, it may underscore the importance of the future study of the etiology of hypospadias and the effect of industrial pollutants. Douglas A. Canning, M.D. 1. Matlai, P. and B e d , V.: Trends in congenital malformations of external genitalia. Lancet, 1: 108, 1985. 2. W e n , B. and Winberg, J.: An epidemiological study of hypospadias in Sweden. Acta Paed. Scand.,

Genital Malformations in a Child With VATER Association

Since the initial description in 1968, 1 knowledge of this entity of multiple congenital malformations has steadily expanded. Recently, it was suggested that malformation of external genitalia in males may be part of abnormalities found in this condition. 2 The following report describes a girl with vertebral defects, anal atresia, T-E fistula, renal defects, and radical limb dysplasia (VATER) association who, in addition, has severe malformations of the genitalia. Report of a Case .—A 4-year-old girl had been born six weeks prematurely and weighed 1,530 g. The mother had been 29 years of age and the father 31 years of age at the time of the patient's birth. The pregnancy had been complicated by spotting at seven or eight weeks. There was no history of exposure to teratogens and no family history of malformations. The mother had not taken contraceptive pills for two years prior to pregnancy. At birth, the