Aromatase deficiency caused by mutation of CYP19A1 gene: A case report / 中南大学学报(医学版)

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.

Análisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativo / Clinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Development / Análise clínica e citogenética de um caso de transtorno do desenvolvimento sexual testicular XX com SRY-negativo

Resumen: El trastorno del desarrollo sexual (TDS) testicular XX es una patología que se presenta en un individuo con cariotipo 46,XX con un fenotipo anatómico de genitales externos masculinos, que pueden variar desde la normalidad hasta la ambigüedad genital. Clínicamente se han descrito dos subgrupos de hombres 46,XX con SRY-negativos y SRY-positivos, dependiendo de la presencia o no del gen SRY que normalmente se encuentra en el cromosoma Y participando en la determinación testicular. En este artículo se describen los antecedentes personales y los hallazgos clínicos de un infante con anomalías del meato urinario en el cual se identificó un complemento cromosómico 46,XX. También, se realizó hibridación in situ fluorescente en linfocitos de sangre periférica que demostró la ausencia del gen SRY y confirmó la presencia de dos cromosomas X.

Abstract XX testicular disorder of sex development (DSD) is a pathology that occurs in an individual with a 46,XX karyotype and an anatomical phenotype of male external genitalia, which may vary from normal to ambiguous. Clinically, two subgroups of SRY-negative and SRY-positive, 46, XX men have been described, depending on the presence of the SRY gene that is normally found on the Y chromosome participating in testicular determination. This article describes the personal history and clinical findings of an infant with urethral meatus abnormalities in whom a 46,XX chromosome set was identified. Also, fluorescent in situ hybridization was performed in peripheral blood lymphocytes which demonstrated the absence of the SRY gene and confirmed the presence of two X chromosomes.

Resumo: O transtorno do desenvolvimento sexual (TDS) testicular XX é uma patologia apresentada em um indivíduo com cariótipo 46,XX com um fenótipo anatômico de genitais externos masculinos, que podem variar da normalidade à ambiguidade genital. Clinicamente, são descritos dois subgrupos de homens 46,XX com SRY-negativos e SRY-positivos, dependendo da presença ou não do gene SRY que normalmente se encontra em Y cromossomo participando da determinação testicular. Neste artigo, são descritos os antecedentes pessoais e os achados clínicos de uma criança com anomalias de meato urinário em que foi identificado um complemento cromossômico 46,XX. Além disso, foi rea -lizada hibridação in situ fluorescente em linfócitos de sangue periférico que demonstrou a ausência do gene SRY e confirmou a presença de dois cromossomos X.

Reporte de serie de casos: neovagina en pacientes con Síndrome Mayer-Rokitansky-Kuster-Hauser / Case series report: neovagina in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome

RESUMEN INTRODUCCIÓN: La ausencia congénita de vagina es una condición poco común, algunas causas son el síndrome de Mayer-Rokitansky-Kuster-Hauser y la insensibilidad periférica a los andrógenos. Múltiples técnicas quirúrgicas y no quirúrgicas se han descrito para el manejo de esta condición, siendo el objetivo principal la creación de un canal vaginal de diámetro y longitud adecuada que permitan restaurar la función coital. El objetivo de este estudio es detallar la experiencia del procedimiento de neovagina con la técnica quirúrgica de McIndoe en pacientes con Mayer-Rokitansky-Kuster-Hauser realizados en la Unidad de Uroginecología de la Clínica Universitaria Bolivariana. METODOLOGÍA: Reporte de 5 casos de pacientes con agenesia de vagina secundarios al síndrome de Mayer-Rokitansky-Kuster-Hauser, a las cuales se les realizó neovagina con la técnica de McIndoe con algunas modificaciones en el molde para el implante de piel. RESULTADOS: Se incluyeron cinco pacientes con diagnóstico de Mayer-Rokitansky-Kuster-Hauser, todas tenían desarrollo de características sexuales secundarias, perfil hormonal normal, y un cariotipo XX. Se utilizó la técnica quirúrgica de McIndoe para la realización de la neovagina sin complicaciones intraoperatorias asociadas y con adecuada evolución posoperatoria, con una longitud vaginal entre 7-9 cm y 3 pacientes con vida sexual activa. El tiempo de estancia hospitalaria fue 7 a 9 días. CONCLUSIÓN: La técnica quirúrgica de McIndoe es una opción para restaurar la función sexual en mujeres con agenesia vaginal con resultados favorables. El tiempo para decidir su realización es electivo, sin embargo, se debe contar con madurez física y emocional para ser llevado a cabo. Las pacientes de nuestro reporte tenían una edad promedio de 18 años.

SUMMARY INTRODUCTION: The congenital absence of the vagina is an uncommon condition, some causes are the Mayer-Rokitansky-Küster-Hauser syndrome and peripheral insensitivity to androgens. Multiple surgical and non-surgical techniques have been described for the management of this condition, being the main objective the creation of a vaginal canal of adequate diameter and length to restore coital function. The objective of this study is to detail the experience of the neovagina procedure with the McIndoe surgical technique performed in patients with Mayer-Rokitansky-Küster-Hauser syndrome at the Clinica Universitaria Bolivariana. METHODOLOGY: Report of five cases of patients with vaginal agenesis secondary to the Mayer-Rokitansky-Kuster-Hauser syndrome, who underwent neovagina with the McIndoe technique and some modifications in the mold for the skin implant. RESULTS: Five patients with diagnosis of Mayer-Rokitansky-Kuster-Hauser were included, all had development of secondary sexual characteristics, normal hormonal profile, and a XX karyotype. The McIndoe surgical technique was used to perform the neovagina without associated intraoperative complications and with adequate postoperative evolution, with a vaginal length between 7-9 cm and three patients with active sexual life. The length of hospital stay was 7 to 9 days. CONCLUSION: The McIndoe surgical technique is an option to restore sexual function in women with vaginal agenesis with favorable results. The time to decide its realization is elective, however, they must have the physical and emotional maturity to be carried out. The patients in our report have an average age of 18 years.

Is Rectosigmoid Vaginoplasty Still Useful?

BACKGROUND: The ideal vaginoplasty must be successful functionally as well as have a natural appearance, and also must retain its functionality and appearance over the long term. Conventional vaginoplasty techniques have functional limitations and are associated with recurrent complications, but rectosigmoid vaginoplasty is known to have a high satisfaction rate due to its functional similarity with the vagina. We conducted the present study to assess the usability of rectosigmoid vaginoplasty over the course of long-term follow-up. METHODS: From March 1992 to February 2014, 84 patients were treated with rectosigmoid vaginoplasty; 44 had gender identity disorder, 29 had vaginal agenesis, 8 had female pseudohermaphroditism, and 3 had gynecologic malignancies after radical pelvic surgery. This retrospective study was based on a review of the patients' records, clinical examinations, complications, and questionnaires about appearance, function, and sexual intercourse. RESULTS: All patients who underwent rectosigmoid vaginoplasty were discharged within 2 weeks without surgical flap loss. The early complications were partial flap necrosis, difficulty in defecation, mucous hypersecretion, and postoperative ileus. The late complications were vaginal introitus contracture, vaginal prolapse, and difficulty in urination. The mean length and diameter of the neovagina 3.4 years after rectosigmoid vaginoplasty were 13.2 cm and 3.8 cm, respectively. On questionnaires about satisfaction, 70% of patients reported excellent satisfaction, 11% good, 12% fair, and 7% poor. CONCLUSIONS: Rectosigmoid vaginoplasty is useful, safe, and well-accepted operative method with good functional and cosmetic results, such as natural lubrication and adequate vaginal length and width obtained without requiring the use of a dilator.

Vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermal matrix / 中华整形外科杂志

<p><b>OBJECTIVE</b>To introduce and evaluate the technical feasibility and anatomical and functional outcomes of one-stage vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis.</p><p><b>METHODS</b>We retrospectively reviewed our experiences with 17 patients with Mayer- Rokitansky-Kuster-Hauser syndrome treated with primary surgery from September 2010 to April 2013. All patients underwent vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis. We describe the details of this technique, observe the time of epithelization and evaluate the long- term anatomical, functional, and sexual outcomes.</p><p><b>RESULTS</b>The time of epithelization was 13 d (range: 12-15 d). At a mean follow-up of 15 months (range: 12-24 months), the mean postoperative dependence on the vaginal stent was 11.7 ± 1.64 months (range: 9-15 months), the mean depth of the neovagina was (9.0 ± 0.94) cm (range: 7-11 cm), the mean circumference was (12.3 ± 1.36) cm (range: 10.0-14.5 cm) and the mean volume was (105 ± 10) ml (range 85-120 ml). The mean female sexual function index score of the 12 sexually active patients was 29.5 ± 2.6. No spouse reported discomfort during intercourse.</p><p><b>CONCLUSIONS</b>Vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis is an effective and feasible approach for patients with Mayer-Rokitansky-Kuster-Hauser syndrome. The procedure has satisfactory long-term anatomical and functional results. The use of the acellular allogenic dermis is limited by the high price and the potential infection.</p>

Double burden: A rare case of Turner's syndrome with concomitant Mayer-Rokitanski-Kuster-Hauser syndrome / Philippine Journal of Obstetrics and Gynecology

Amenorrhea is one of the most taxing cases in the field of gynecologic endocrinology. Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes are the two most common separate causes of primary amenorrhea worldwide. Presented here is a rare case of an 18-year old female with Turner's Syndrome and concomitant Mayer-Rokitansky-Kuster-Hauser Syndrome. The worldwide incidence of both syndromes occurring simultaneously in an individual is 1 in 15,000,000 livebirths. The index patient presents with primary amenorrhea and chromosomal analysis revealed 45,X. Transrectal ultrasound noted absence of both the uterus and the ovaries. Early detection of this rare case is important for the initiation of hormone replacement therapy. Adoption is the only option to have a child since Assisted Reproductive Technique (ART) by means of in-vitro fertilization is not applicable for patients with both of these syndromes. Parents and children must be educated regarding the limitations of current knowledge about the management of both Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes and must be given realistic expectations with respect to sexual functionand social acceptance.

Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4th week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

MRKH syndrome: Psychological disturbances and suicide.

The Mayer- Rokitansky-Küster-Hauser (MRKH) syndrome has been known to be associated with psychological abnormalities. However, hardly any case has been reported of suicide by an individual suffering from such syndrome, as per the author‘s knowledge. A 19 year old female was brought to Safdarjung hospital mortuary for post mortem examination. After eliciting a detailed history from the relatives of the deceased, going through the previous investigation reports and after post mortem examination it was confirmed that the deceased was suffering from MRKH syndrome. The mental stress associated with the diseased state resulted in the female committing suicide by ingesting some unknown substance. Emotional support forms the basis of treatment in such cases. Surgical treatment is also employed in some cases so as to help them lead normal sexual life. This paper deals with the pathology and psychological profile of the patient suffering from this syndrome and the therapeutic options that may be considered to ameliorate the stress associated with the disease.

Laparoscopic and gasless laparoscopic sigmoid colon vaginoplasty in women with vaginal agenesis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>In the past several decades we have seen multiple advances in the reconstruction for girls born with vaginal agenesis. This study aimed to evaluate the technical feasibility, anatomical and functional outcomes of one-stage laparoscopic and gasless laparoscopic vaginoplasty with sigmoid colon for the patients of vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome).</p><p><b>METHODS</b>We did a retrospective review of a total of 150 women with Mayer-Rokitansky-Kuster-Hauser syndrome treated at Beijing Anzhen Hospital, Capital Medical University from March 2006 to August 2010. The patients were divided into the CO2 pneumoperitoneum laparoscopic group and the abdominal wall lift of gasless laparoscopic group. Sigmoid colon vaginoplasty approaches were performed in all of the patients. The surgical techniques, perioperative results, complications, anatomical and functional outcomes of vaginoplasty were recorded.</p><p><b>RESULTS</b>All procedures were performed successfully. Significant differences in the operative time and intraoperative blood loss existed in the laparoscopic vaginoplasty group compared with the gasless laparoscopic vaginoplasty group. The patients who underwent sigmoid colon vaginoplasty had good cosmetic results without the problem of excessive mucus production. The postoperative complications were minimal. During a mean follow-up of 15.6 months, no stenosis or shrinkage was encountered. The subjective sexual satisfaction rate with the surgical outcomes in all patients was 83.3%.</p><p><b>CONCLUSIONS</b>Laparoscopic or gasless laparoscopic vaginoplasty with sigmoid colon are effective and feasible approaches for women with congenital vaginal agenesis. The procedures have satisfactory anatomical and functional results.</p>

Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses

Sex determination and differentiation require the balanced and sequential activation of transcription factors, signaling molecules, hormones and their receptors. Disorders of sex development (DSD) have heterogeneous groups of etiologies caused by mutations or deletions of genes involved in sex development. The DSD is categorized into 46, XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Precise diagnosis is essential for sex assignment, surgical correction of external genitalia, prevention of gonadal tumors, psychiatric support, and genetic counseling. The increased genetic knowledge in the field has opened up new diagnostic possibilities. The first line genetic testing for DSD is the assessment of the karyotype and the SRY gene. The follow-up genetic tests are performed for confirmatory diagnosis; the evaluation of copy number variants by array comparative genomic hybridization (CGH), direct sequencing of a specific gene, and functional analyses of mutations. A lot of genes can be analyzed by molecular laboratories and the number of available genes is growing. DNA analyses should be done under clinical assessment on the basis of family history, prenatal history, physical findings focused on external genitalia, endocrinologic data, and radiologic findings. Genetic counseling is essential to help patients and their families understand the disease status and the risk for recurrence in future pregnancies, and participate in the process of sex assignment. Children with DSD should be managed with a multidisciplinary team, including pediatric endocrinology, molecular genetics, cytogenetics, neonatology, urology, and psychiatry.

Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses

Sex determination and differentiation require the balanced and sequential activation of transcription factors, signaling molecules, hormones and their receptors. Disorders of sex development (DSD) have heterogeneous groups of etiologies caused by mutations or deletions of genes involved in sex development. The DSD is categorized into 46, XX DSD, 46,XY DSD, sex chromosome DSD, ovotesticular DSD, and 46,XX testicular DSD. Precise diagnosis is essential for sex assignment, surgical correction of external genitalia, prevention of gonadal tumors, psychiatric support, and genetic counseling. The increased genetic knowledge in the field has opened up new diagnostic possibilities. The first line genetic testing for DSD is the assessment of the karyotype and the SRY gene. The follow-up genetic tests are performed for confirmatory diagnosis; the evaluation of copy number variants by array comparative genomic hybridization (CGH), direct sequencing of a specific gene, and functional analyses of mutations. A lot of genes can be analyzed by molecular laboratories and the number of available genes is growing. DNA analyses should be done under clinical assessment on the basis of family history, prenatal history, physical findings focused on external genitalia, endocrinologic data, and radiologic findings. Genetic counseling is essential to help patients and their families understand the disease status and the risk for recurrence in future pregnancies, and participate in the process of sex assignment. Children with DSD should be managed with a multidisciplinary team, including pediatric endocrinology, molecular genetics, cytogenetics, neonatology, urology, and psychiatry.

Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.</p><p><b>METHODS</b>Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.</p><p><b>RESULTS</b>PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.</p><p><b>CONCLUSION</b>Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.</p>

Estrogen deficiency reversibly induces telomere shortening in mouse granulosa cells and ovarian aging in vivo

Estrogen is implicated as playing an important role in aging and tumorigenesis of estrogen responsive tissues; however the mechanisms underlying the mitogenic actions of estrogen are not fully understood. Here we report that estrogen deficiency in mice caused by targeted disruption of the aromatase gene results in a significant inhibition of telomerase maintenance of telomeres in mouse ovaries in a tissue-specific manner. The inhibition entails a significant shortening of telomeres and compromised proliferation in the follicular granulosa cell compartment of ovary. Gene expression analysis showed decreased levels of proto-oncogene c-Myc and the telomerase catalytic subunit, telomerase reverse transcriptase (TERT), in response to estrogen deficiency. Estrogen replacement therapy led to increases in TERT gene expression, telomerase activity, telomere length and ovarian tissue growth, thereby reinstating ovary development to normal in four weeks. Our data demonstrate for the first time that telomere maintenance is the primary mechanism mediating the mitogenic effect of estrogen on ovarian granulosa cell proliferation by upregulating the genes of c-Myc and TERT in vivo. Estrogen deficiency or over-activity may cause ovarian tissue aging or tumorigenesis, respectively, through estrogen regulation of telomere remodeling.

Vaginoplasty by using amnion graft in patients of vaginal agenesis associated with Mayor-Rokitansky-Kuster-Hauser Syndrome

Vaginal agenesis is congenital anomaly of the female genital tract and may occur as isolated developmental defect or as part of a complex of anomalies. The aim of this study was to determine the effectiveness of vaginoplasty by using amnion as graft in the creation of neovagina for patients with Mayor-Rokitansky-Kuster-Hauser Syndrome. This is a retrospective study of 28 cases of vaginal agenesis associated with Mayor-Rokitansky-Kuster-Hauser Syndrome, over the period of 20 years, in which vaginoplasty was done by modified McIndoe procedure by using amnion as graft. Vaginoplasty using amnion graft was successfully performed in all except one case in which rectum got opened and procedure was abandoned after the repair of rectum. The functional results were quite satisfactory. Except one case none had any significant peri-operative complication. Post surgical results were acceptable to the patients sexually and aesthetically. Although new techniques of vaginoplasty have evolved over the years using laparoscopic approach and by use of different materials as graft, vaginoplasty with amnion graft is still a safe and effective procedure to treat patients of vaginal agenesis. The technique is simple and safe and provides a satisfactory and functional vagina in majority of the patients

[Comparing sexual function in normal women and women having undergone vaginoplasty for rokitansky syndrome]

Aplasia of the uterus and upper two-thirds of the vagina due to Mayer-Rokitansky-Kuster-Hauser syndrome prevents normal coitus which may lead to anxiety and other psychiatric problems in these women. Vaginal reconstruction improves the patients' quality of life. This study intends to compare sexual function in normal women and women having undergone vaginoplasty for Mayer-Rokitansky-Kuster-Hauser syndrome. This descriptive and analytical study was carried out in the gynecologic clinic of Imam Khomeini Hospital in 2004 to 2008. Nineteen female patients with Mayer-Rokitansky-Kuster-Hauser syndrome and a history of vaginoplasty were compared to 30 women without any anatomical malformations in their genitalia. The female sexual function index [FSFI] was used to evaluate the problem in the two groups. The calculated scores of the two groups were compared and statistically analyzed. The mean age of the patients was 29.57 [SD = 6.11] years. The mean score for sexual desire in individuals with a history of vaginoplasty was 22.84 [SD = 2.5] compared to 24.63 [SD = 2.94] in the healthy women [p = 0.033] and the mean score for sexual arousal in women having undergone vaginoplasty was 13.89 [SD = 2.47] compared to 15.27 [SD = 3.41] in the healthy individuals. Sexual arousal, orgasm and pain were not different between the two groups. Sexual arousal and satisfaction were not different in women having undergone vaginoplasty and women with normal sexual function. It seems that the surgery offers a better quality of life and is acceptable to women with Mayer-Rokitansky-Kuster-Hauser syndrome

A case of primary amenorrhea with hypertension due to 17alpha-hydroxylase deficiency / 대한산부인과학회지

17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as female pseudohermaphroditism and sexually infantile female with 46,XX karyotype or male pseudohermaphroditism with 46, XY karyotype, due to impaired production of sex hormone. We experienced a case of 17alpha- hydroxylase deficiency (46,XX) presented with primary amenorrhea, sexual infantilism, and hypertension. We report this case with a brief review of the concerned literatures.

Surgical Correction of Intersex with Feminizing Genitoplasty / 대한비뇨기과학회지

PURPOSE: Feminizing genitoplasty is the surgical management after female gender assignment for intersex patients. The surgical outcome and complications of 20 cases of feminizing genitoplasty were analyzed. MATERIALS AND METHODS: Between January 1988 and December 2003, 20 patients surgically treated by feminizing genitoplasty, were retrospectively reviewed. The mean ages at the time of diagnosis and surgical treatment were 6.25 and 7.35 years, respectively. The preoperative evaluations included history taking, physical examination, and chromosomal, hormonal, and radiological studies. All patients underwent feminizing genitoplasty, including at least one of clitoral reconstruction, vaginoplasty or labial reconstruction. The 20 patients were analyzed according to their karyotype, phenotype, gender of rearing, ages at diagnosis and operation, surgical procedures, complications and follow up. RESULTS: Of the 20 cases, there were 10 female pseudohermaphroditism, 6 male pseudo- hermaphroditism, 3 gonadal dysgenesis, and 1 Mayer- Rokitanski-Kuster syndrome. Within these cases, 14, 10 and 9 clitoral reconstructions, vaginoplasties and labial reconstructions were performed. The streak gonad was removed in all patients with gonadal dysgenesis. Postoperative cosmetic and functional effects were successful, with few complications. CONCLUSIONS: Considering our surgical outcomes, feminizing genitoplasty for intersex patients, who are determined to a female gender assignment, is a good surgical procedure.

Causes and Clinical Characteristics of Patients with Abnormal Sex Differentiation and Development / 대한진단검사의학회지

BACKGROUND: Abnormal sex differentiation and development may present ambiguous genitalia in the newborn or lack of secondary sexual characteristics in puberty. A prompt and accurate diag-nosis should be established to minimize or avoid medical, psychological and social complications. The purpose of this study was to evaluate the causes and clinical characteristics of patients with abnormal sex differentiation and development. METHODS: We analyzed 35 patients with abnormal sex differentiation and development. Twenty patients had been considered or reared as males and fifteen patients as females. The diagnostic evaluation consisted of physical examination, hormonal analysis, sonogram, genitogram, gonadal biopsy and cytogenetics. RESULTS: Among the thirty-five patients, 11 patients were hypogonadism, 9 male pseudoherma-phroditism (5 hypospadia, 2 androgen insensitivity syndrome), 6 female pseudohermaphroditism (4 congenital adrenal hyperplasia), 4 micropenis, 4 congenital anomaly and 1 mixed gonadal dys-genesis. Gonadectomy was performed in patients with androgen insensitivity syndrome and mixed gonadal dysgenesis. Sex of rearing and gender assignment were all concordant with the known sex except one patient, who was previously reared as female and finally reassigned as male due to 5-alpha reductase deficiency. CONCLUSIONS: The causes of abnormal sex differentiation and development were variable. There-fore, an accurate diagnosis should be made by history, physical examination, radiologic and laboratory tests. Proper management and sex assignment are needed in accordance with the cause.

The Surgical Management of the Ambiguous Genitalia in 16 Cases / 대한비뇨기과학회지

PURPOSE: A change in gender assignment after 2 years of age is associated with severe psychological problems for the child and family. It is important that a definitive diagnosis be determined as quickly as possible. The treatment of ambiguous genitalia will be different by individual difference. We reviewed 16 cases of ambiguous genitalia patients with the object of encouraging early diagnosis and proper treatment individually. MATERIALS AND METHODS: We reviewed retrospectively 16 patients with ambiguous genitalia who were surgically managed at our department. Diagnostic workup included chromosomal analysis, blood and urine steroid measurement, hormonal study and radiologic study. The patients consisted of female pseudohermaphroditism in five cases, male pseudohermaphroditism in nine cases, true hermaphroditism and mixed gonadal dysgenesis in one case in each. The groups were analyzed according to karyotype, sex of rearing, age at diagnosis, age at operation, op procedure, post op complication and follow up. RESULTS: Five cases of female pseudohermaphroditism were raised as female in three cases and male in two cases, re-assigned and surgically corrected as four females and one male. Nine cases of male pseudohermaphroditism were raised as female in six cases and male in three cases, re-assigned and surgically corrected as three females and six males. One case of true hermaphroditism was surgically corrected as male. One case of mixed gonadal dysgenesis was surgically corrected as female and then given hormonal therapy. Four patients had sex conversion after 2 years of age. CONCLUSIONS: Though early diagnosis and treatment are most important, most patients were diagnosed and treated after 2 years of age. A continuous effort should be made to educate parents and alert attending physicians so that early diagnosis and treatment of these patients could be made as soon as possible.