Klinefelter syndrome with partial androgen insensitivity syndrome: a case report and literature review / 中华实用儿科临床杂志

The clinical data of a patient with Klinefelter syndrome (KS) complicated by partial androgen insensitivity syndrome (PAIS) was retrospectively analyzed.The patient, a 2-month-and-22-day-old baby, was admitted to Children′s Hospital Affiliated to Zhengzhou University due to abnormal external genitalia in October 2021.Upon birth, the patient exhibited abnormal external genitalia, manifested as clitoral hypertrophy.Hormonal examinations were consistent with those of peers, while chromosomal analysis revealed 47, XXY.Due to the severe undermasculinization, whole exome sequencing was conducted, indicating a heterozygous variant of the AR gene (c.1847G>A, p.Arg616His). The patient was diagnosed with PAIS, and her elder sister was diagnosed with complete androgen insensitivity syndrome.For further treatment, a multidisciplinary comprehensive evaluation is needed.This is a rare case of KS combined with PAIS, suggesting the possibility of AR gene mutations in KS children with severe undermasculinization.

A case of partial androgen insensitivity syndrome with undescended testis and clitoromegaly

Androgen insensitivity syndrome is a rare disorder of sex development that results from genetic mutations affecting the androgen receptor. Recently, we encountered a case of a 13-year-old individual who had been raised as female and sought medical attention for primary amenorrhea, which led to the discovery of partial androgen insensitivity syndrome. Early detection and gonad removal are necessary to mitigate the risk of cancer. Additional management steps such as corrective surgery and psychological support can also be valuable.

Laron syndrome: A tale of two siblings / Journal of the ASEAN Federation of Endocrine Societies

@#Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.

A Case Report of Congenital Insensitivity to Pain with Anhidrosis / 罕见病研究

Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options. Through a decade-long follow-up of a single case, we aim to provide new insights for clinicians regarding the choice of surgical strategies and postoperative complications. The diagnosed patient exhibited congenital insensitivity to pain and anhidrosis, accompanied by severe Charcot arthropathy affecting the spine. Multiple postoperative complications, including implant displacement, adjacent segment pathology, and pedicle screw loosening, occurred after surgical intervention, leading to five subsequent revision surgeries. Considering the limited experience in managing CIPA-related Charcot spinal arthropathy in the literature, surgical correction remains the preferred treatment. Among the 16 cases reviewed, common postoperative complications included implant displacement, adjacent segment pathology, and pedicle screw loosening. Based on current experience, we do not recommend extensive resection and reconstruction after removing the affected vertebral body, as this may increase the risk of implant displacement. Instead, a 360° long-segment fusion may help reduce the risk of adjacent segment degeneration. Additionally, we discuss potential reasons for revision surgery after Charcot spinal arthropathy surgery and perioperative management strategies for such cases. Meticulous care, appropriate rehabilitation exercises, and metabolic therapy for bone mineralization are crucial components of the treatment for this condition.

Three cases of partial androgen insensitivity syndrome and literature review / 中国基层医药

Objective:To investigate the clinical features, diagnosis, treatment, and future sex selection in patients with partial androgen insensitivity syndrome (PAIS).Methods:Retrospective analysis of clinical data of three patients with PAIS who received treatment in The Third Affiliated Hospital of Xi'an Medical University, Beijing Ditan Hospital of Capital Medical University, and Beijing Yayuncun Amcare Women's and Children's Hospital from 2013 to 2015 was conducted. Physical signs, specialized examinations, surgical explorations, and treatments were analyzed. The Chinese database was searched, and 12 cases of PAIS were collected and summarized.Results:Fifteen patients with PAIS presented with primary amenorrhea (15/15). Special clinical manifestations included gender as male or appearing as male (5/15), penile dysplasia or clitoral hypertrophy (14/15), urethral dysplasia (5/15), and breast development (4/15). Eleven cases were treated based on female gender (including surgery and hormone replacement therapy). There were three special patients with PAIS who had specific etiology, genetics, clinical manifestations, histopathology, diagnosis, and treatment and ultimately underwent treatment based on female gender.Conclusion:PAIS is a rare form of disorder of sex development, featuring a karyotype of 46, XY, and is a congenital X-linked recessive condition. Understanding the pathogenesis of PAIS more thoroughly can contribute to accurate diagnosis, personalized treatment, and well-organized follow-up, thereby preventing gender dysphoria.

Androgen Insensitivity Syndrome: A Case Report

Background: Androgen insensitivity syndrome refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cells in how to use it. This is a genetic disorder that makes XY foetuses insensitive (unresponsive) to androgens, they are born looking externally like normal girls and Internally, there is a short blind pouch vagina and no uterus, fallopian tube or ovaries. There are testes in the abdomen or in the inguinal canal. The CAIS is usually detected at puberty when a girl should but does not begin to menstruate. They are at high risk of osteoporosis so should take oestrogen replacement therapy. Case Report: PAIS results in micropenis with hypospadias and gynaecomastia. We report this rare case of 18yr old female patient with primary amenorrhea. Subsequent investigation including karyotyping revealed that the patient is phenotypically female but genotypically male with testes. Gonadectomy was done with proper counselling and patient was put on hormonal replacement replacement therapy.

Perioperative nursing of a case of a chlid who is congenital insensitivity to pain with anhidrosis and lower lip bite defect repair / 中国实用护理杂志

Objective:To summarize the perioperative nursing points of a child with congenital insensitivity to pain with anhidrosis and lower lip bite defect repair.Methods:To summarize and analyze the perioperative nursing care of a child with congenital insensitivity to pain with anhidrosis and lower lip bite defect repair in September 2020 in Peking University School of Stomatology (Peking University Hospital of Stomatology).Results:The operation was successful. On the 7th day after operation, the child was discharged from the hospital after her stitches removed. The child was revisited one month after surgery. The wound of the child′s lip healed well without infection and bite.Conclusions:For this case, the wound infection should be prevented and to avoid the occurrence of re-bite. Taking active protective measures to prevent accidental injury and autotomy is the key to nursing care.

Androgen Insensitivity Syndrome with Bilateral Cryptorchidism and Seminoma in Tibet:Report of One Case / 中国医学科学院学报

Androgen insensitivity syndrome(AIS)with bilateral testicular malignant transformation is very rare,and its diagnosis should be based on clinical manifestations,physical examination,serological findings,karyotype analysis,and pathological findings.This study reported a case of complete androgen insensitivity syndrome among Tibetan in Tibet.It took 17 years from the discovery of congenital absence of uterus to bilateral pelvic mass resection.Pathological examination confirmed that bilateral pelvic space occupying lesions were dysplastic testicular tissue with seminoma and sertoli cell adenoma-like nodules.This study summarized the clinicopathological features to deepen the understanding of the disease.

Complete Androgen Insensitivity Syndrome: Diagnosis and Psychological Impact in Two Adolescents, A Case Report

@#This case report illustrates two cases of complete androgen insensitivity syndrome (CAIS) which is a rare form of sexual development disorder. Both presented with primary amenorrhea at the age of 18 and 19 years old. The hormonal profiles ruled out hypothyroidism, hyperprolactinemia, and primary ovarian failure. Magnetic resonance imaging of both patients showed the absence of uterus, fallopian tubes, ovaries, but the presence of proximal 1/3rd of the vagina. There is a single testis in the left inguinal region with unknown status of spermatogenesis. Women with CAIS are vulnerable to various psychological conditions caused by the appalling fact of being genotypically male when they have been raised female all their life. The gender confusion, reproductive issues, and how others perceive them require sensitive support. Hence, accentuate the need to explore and address the emotional, psychological, and psychiatric vulnerabilities, religious and spiritual beliefs in issues of relationships, infertility, and conception.

Atendendo mulheres com cariótipo 46, XY / Attending women with 46, XY karyotype

As diferenças ou distúrbios do desenvolvimento sexual (DDS) compreendem um grupo heterogêneo de condições congênitas que resultam na discordância entre os cromossomos sexuais, as gônadas e/ou o sexo anatômico de um indivíduo. A classificação desses distúrbios é baseada no cariótipo conforme o Consenso de Chicago de 2006 e substitui os termos pseudo-hermafroditismo, hermafroditismo e intersexo. O objetivo desta revisão é fornecer ao ginecologista conhecimentos básicos sobre a etiologia, fisiopatologia e orientações das principais anormalidades de DDS para uma avaliação diagnóstica e terapêutica no atendimento de mulheres na infância, adolescência e em idade adulta com cariótipo 46,XY. O diagnóstico deve ser realizado pela interação entre o exame clínico as dosagens hormonais, os exames de imagem e a análise genética, desde o cariótipo até o estudo de alterações dos genes por técnicas de biologia molecular. O tratamento é realizado de acordo com a etiologia e inclui intervenções cirúrgicas como a gonadectomia e plásticas sobre a genitália externa, terapia de reposição hormonal e apoio psicológico. São necessárias a individualização dos casos e uma equipe interdisciplinar, para um atendimento adequado às mulheres com cariótipo 46,XY.(AU)

Differences or disorders of sexual development (DSDs) comprise a heterogeneous group of congenital conditions that result in the disagreement between an individual's sex chromosomes, gonads and/or anatomic sex. The classification of these disorders is based on the karyotype according to the 2006 Chicago Consensus and replaces the terms pseudohermaphroditism, hermaphroditism and intersex. The aim of this review is to provide the gynecologist with basic knowledge about the etiology, pathophysiology and guidelines of the main abnormalities of DDS for a diagnostic and therapeutic evaluation in the care of women in childhood, adolescence and adulthood with a karyotype 46,XY. The diagnosis must be made by the interaction between clinical examination hormonal measurements, imaging and genetic analysis from the karyotype to the study of gene alterations by molecular biology techniques. Treatment is carried out according to the etiology and includes surgical interventions such as gonadectomy and plastic surgery on the external genitalia, hormone replacement therapy and psychological support. Individualization of cases and an interdisciplinary team are required to provide adequate care for women 46,XY karyotype.(AU)

Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis / Síndrome de insensibilidade completa aos androgênios: um caso raro de diagnóstico pré-natal

Abstract With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.

Resumo Com a utilização generalizada de testes pré-natais não invasivos (TPNIs), uma crescente porção de mulheres tem acesso ao sexo cromossômico fetal, o que aumenta o potencial para identificar discordância sexual pré-natal. O diagnóstico pré-natal da síndrome de insensibilidade androgénica é um achado incidental e raro. Pretendemos apresentar um caso índice de diagnóstico pré-natal por meio de DNA fetal livre e incompatibilidade entre sexo fetal e fenótipo ecográfico. Neste caso particular, a análise molecular do gene do receptor de andrógenios (RA) revelou a presença de uma mutação patogênica, não relatada anteriormente, consistente com a síndrome de insensibilidade completa aos androgênios. A mãe revelou ser portadora da mesma variante, confirmando a hereditariedade hemizigótica. A identificação da base genética permite o diagnóstico pré-implantação ou pré-natal em futuras gestações.

Manifestaciones clínicas y complicaciones de la Neuropatía Autonómica y Sensorial Hereditaria Tipo II / Clinical manifestations and complications of Hereditary Sensory and Autonomic Neuropathy Type II / Manifestações clínicas e complicações da Neuropatia Autonômica e Sensorial Hereditária Tipo II

Resumen La percepción del dolor es una respuesta adaptativa ante la presencia de eventos dañinos y potencialmente fatales. La Insensibilidad Congénita al Dolor, Neuropatía Autonómica y Sensorial Hereditaria Tipo II, o Síndrome de Morvan de causa desconocida, es una afección en la que se produce una pérdida de la discriminación de las señales dolorosas, así como de la respuesta emocional-afectiva. Debido a esto, la persona afectada no evade los estímulos dolorosos y, en consecuencia, puede infligirse daño a sí mismo. Incluso, durante el tratamiento de dichas lesiones pueden producir complicaciones graves como se describe en el desarrollo del presente caso clínico. Este síndrome es muy raro, de ahí la importancia de dar a conocer las complicaciones que pueden ocurrir con el fin de que la comunidad médica detecte a tiempo a este tipo de pacientes. Este reporte de caso muestra el seguimiento durante diez años de un paciente femenino con diagnóstico de Neuropatía Autonómica y Sensorial Hereditaria Tipo II. La paciente tuvo ingresos repetidos en los servicios de salud por procesos infecciosos en la cavidad bucal que involucró a múltiples órganos dentales, evolucionando a osteomielitis, por lo que tuvo que recurrirse a la mandibulectomía, incluso después de que se sometió a varios tratamientos farmacológicos. A pesar de los esfuerzos por mantener a la paciente con la mejor calidad de vida posible, este caso muestra que un diagnóstico tardío conduce a un pronóstico y condición de vida desfavorables.

Abstract The perception of pain is an adaptive response to the presence of harmful and potentially fatal events. Congenital insensitivity to pain, Hereditary Sensory and Autonomic Neuropathy Type II or Morvan syndrome of unknown cause, is a condition in which there is a loss of discrimination of the painful signals, as well as the emotional-affective response. Due to this, the person, that suffering this disorder, does not evade the painful stimuli and, consequently, can inflict damage to himself or herself. Even during the treatment of such lesions can produce serious complications as described in the development of the present clinical case. This syndrome is very rare, hence the importance of publicizing the complications that may occur in order for the medical community to detect this type of patients as soon as possible. This case report shows the follow-up of a female patient with Hereditary Sensory and Autonomic Neuropathy Type II for ten years. The patient has had several admissions to the hospital, due to infectious processes in the oral cavity that involved multiple dental organs, evolving to osteomyelitis, and for this reason, the mandibulectomy must performed in the patient; even after she underwent several pharmacological treatments. Despite the efforts to maintain the patient with the best possible quality of life, this case shows that a late diagnosis lead to an unfavorable prognosis and life condition for patients suffering from this genetic anomaly.

Resumo A percepção da dor é uma resposta adaptativa à presença de eventos potencialmente fatais e prejudiciais. A insensibilidade congênita à dor, neuropatia autonômica e sensorial hereditária tipo II, ou síndrome de Morvan de causa desconhecida, é uma condição na qual há perda de discriminação de sinais dolorosos e resposta emocional-emocional. Por esse motivo, a pessoa afetada não evita estímulos dolorosos e, consequentemente, danos podem ser infligidos a si mesma. Mesmo durante o tratamento das referidas lesões, elas podem produzir complicações graves, como descrito no desenvolvimento do presente caso clínico. Essa síndrome é muito rara, daí a importância de divulgar as complicações que podem ocorrer para que a comunidade médica detecte esse tipo de paciente a tempo. Este relato de caso mostra o seguimento de dez anos de uma paciente com diagnóstico de Neuropatia hereditária autonômica e sensorial tipo II. A paciente repetiu internações nos serviços de saúde por processos infecciosos na cavidade bucal que envolviam múltiplos órgãos dentários, evoluindo para osteomielite e, portanto, precisou recorrer à mandibulectomia, mesmo após vários tratamentos farmacológicos. Apesar dos esforços para manter o paciente com a melhor qualidade de vida possível, este caso mostra que um diagnóstico tardio leva a um prognóstico e condição de vida desfavoráveis.

Síndrome de insensibilidad a andrógenos: revisión bibliográfica a propósito de 5 casos / Androgen insensitivity syndrome: literature review about 5 cases

El síndrome de insensibilidad a andrógenos (AIS en la sigla inglesa) es una entidad muy poco frecuente en endocrinología. Se caracteriza por la mutación del receptor de andrógenos de magnitud variable, por medio del cual individuos 46,XY no se virilizan normalmente, a pesar de conservar sus testículos y tener concentraciones de testosterona en rango masculino. El cuadro clínico es variable y depende la profundidad de la alteración del receptor. En un extremo, hay casos de insensibilidad androgénica completa (CAIS) con fenotipo femenino. En el otro extremo hay insensibilidad parcial (PAIS) que se extiende desde el fenotipo femenino, con o sin ambigüedad genital, hasta los casos de hombres infértiles o con subvirilización, que presentan insensibilidad androgénica más leve. En los fenotipos femeninos, los testículos suelen estar en posición ectópica y aquellos ubicados dentro del abdomen tienen riesgo de malignizarse, por lo que suelen extirparse. Estos son los casos de más difícil manejo, pues aparte de la necesidad de gonadectomía seguida de terapia hormonal femenina, existe una vagina estrecha y en fondo de saco ciego y que suele requerir corrección quirúrgica para permitir la actividad sexual. En este trabajo presentamos 5 casos de AIS vistos recientemente en 2 centros clínicos de Santiago y que ilustran la heterogeneidad de presentación. Además, hacemos una revisión actualizada de los criterios diagnósticos, los tratamientos más adecuados y el manejo global de esta condición.

The Androgen insensitivity syndrome (AIS, in its English acronym) is a very rare entity in endocrinology. It is characterized by a variable magnitude androgen receptor mutation, whereby 46, XY individuals are not normally virilized, despite retaining their testicles and having testosterone concentrations in the male range. The clinical picture is variable and depends on the depth of the receptor alteration. At one extreme, there are cases of complete androgenic insensitivity (CAIS) with a female phenotype. At the other extreme, there is partial insensitivity (PAIS) that extends from the female phenotype, with or without genital ambiguity, to cases of infertile or undervirilized men, who have milder androgenic insensitivity. In female phenotypes, the testes are usually in an ectopic position and those located within the abdomen are at risk of malignancy, and therefore are usually removed. These are the most difficult cases to manage because apart from the need for gonadectomy followed by female hormonal therapy, there is a narrow vagina and a deep blind pouch that usually requires surgical correction to allow sexual activity. In this work, we present 5 cases of AIS recently seen in 2 clinical centers in Santiago and that illustrate the heterogeneity of presentation. In addition, we make an updated review of the diagnostic criteria, the most appropriate treatments, and the overall management of this condition.

Complete androgenin sensitivity syndrome presenting with primary amenorrhoea and inguinal mass: a case report

Androgen insensitivity syndrome (AIS), also known as testicular feminization, an X-linked recessive disorder comprises a wide range of phenotypes that are caused by various types of mutations in the androgen receptor gene. AIs can be classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. We report this case as an interesting and rare syndrome. The patient is a 15-year-old phenotypic female who presented with primary amenorrhea and normal-appearing external genitalia. Orchidectomy was done after proper counselling and proper psychological support was given to her.

Histopathological spectrum of disorders of sexual development: a case series of seven cases

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

Manifestaciones clínicas de la insensibilidad congénita al dolor con anhidrosis / Clinicai manifestations of congenital Insensitivity to pain with anhidrosis

RESUMEN Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN IV o CIPA) es una enfermedad rara con sintomatologia multisistémica, que impacta el funcionamiento cognitivo, y afecta negativamente la calidad de vida los pacientes y sus familias. Se estima que la mayoría de los individuos que padecen esta enfermedad mueren antes de los tres años por las complicaciones que esta genera. Objetivo: Realizar una revisión de la sintomatologia clinica de la enfermedad y las alteraciones neurocognitivas reportadas en 145 casos de pacientes con insensibilidad congénita al dolor con anhidrosis reportados en la literatura cientifica entre 2000 y 2017. Desarrollo: La revisión permitió identificar los sintomas clínicos más frecuentes en los pacientes con insensibilidad congénita al dolor con anhidrosis IV: fiebres, anhidrosis, osteomielitis, fracturas, artropatias y necrosis avascular. Conclusiones: La insensibilidad congénita al dolor con anhidrosis como enfermedad multisistémica tiene implicaciones cognitivas en pacientes que la padecen; sin embargo, se desconoce el nivel de impacto de esta enfermedad en el comportamiento y las funciones superiores de los pacientes afectados.

ABSTRACT Introduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individuals suffering from this disease die before turning three years of age due to the complications that arise from this condition. Objective: Review the clinical symptomatology of this disease and the neurocognitive alterations that occurred in 145 cases of patients with HSAN IV reported in the scientific literature between 2000 and 2017. Findings: Te review allowed to identify the most frequent clinical symptoms in patients with HSAN IV: fever, anhidrosis, osteomyelitis, fractures, arthropathies and avascular necrosis. Conclusions: There is a scientific ignorance of the impact of HSAN IV on the behavior and superior functions in patients affected by this disease.

Síndrome de insensibilidad androgénica. A propósito de un caso clínico / Androgenic insensitivity syndrome. About a clinical case

RESUMEN El síndrome de insensibilidad androgénica (SIA) es una de las anormalidades de la diferenciación sexual (desarrollo sexual diferente). Es un trastorno genético dependiente del cromosoma X, produce una alteración en el receptor de andrógenos, se asocia con testículos en las mujeres cuyo cariotipo es XY y con agenesia vaginal y uterina. Acuden a la consulta médica los padres con su hija recién nacida de 12 días de edad. Motivo de consulta: masa en la región inguinal derecha. Examen físico: signos vitales normales, activa al manejo, reactiva. Se observa una masa en la región inguinal derecha de aproximadamente 2 cm de diámetro, reductible, no dolorosa. Genitales externos femeninos: normales. La paciente es referida al Servicio de Cirugía para proceder a la corrección del defecto herniario. Se indica realizar un estudio citogenético y medir los niveles hormonales en sangre. Resultado del estudio anatomopatológico posquirúrgico, luego de 7 días de haber sido intervenida quirúrgicamente: "Tejido gonadal de tipo testicular con zonas de congestión vascular y hemorragia focal". Los niveles hormonales sanguíneos son normales; el cariotipo es normal masculino XY. Diagnóstico: debido a que el resultado del cariotipo es concluyente, se diagnostica síndrome de insensibilidad androgénica (SIA)" completo.Palabras claves: síndrome de insensibilidad androgénica, hernia inguinal, cariotipo

ABSTRACT Androgen insensitivity síndrome (AIS) is one of the causes of abnormalities in sexual differentiation (different sexual development). SIA is an X-linked genetic condition caused by an androgen receptor disorder, associated with vaginal and uterine agenesis, and the presence of testicles in women with an XY karyotype. Parents with 12-day-old neonates go to medical consultation. The reason for consultation is a mass in the right inguinal region. On physical examination: normal vital signs, active on management, reactive. A mass is observed at the level of the right inguinal region of approximately 2 cm in diameter, reducible and not painful. Female external genital with normal characteristics. The patient is referred for surgery to correct hernia defect. A cytogenetic study and blood hormone leves are indicated. Seven days after the intervention, parents came with the results of the postoperative pathological study: testicular gonadal tissue with áreas of vascular congestion and focal hemorrhage. Blood hormonal lever are normal and anormal XY male karyotype is seen. Diagnosis: the result of the karyotype is conclusive and a complete AIS is diagnosed.Keywords:androgen insensitivity syndrome, inguinal hernia, karyotype.

Síndrome de Insensibilidad Completa a Andrógenos (SICA): reporte de un caso clínico / Complete Androgen Insensitivity Syndrome (CAIS): report of a clinical case

INTRODUCTION: Complete Androgen Insensitivity Syndrome (CAIS) is a X-linked recessive disorder characterized by a complete resistance of the Androgen Receptor (AR) to androgens. As a result, affected individuals present complete female external genitalia, but are genetically male with a 46, XY karyotype. The typical presentation for this syndrome is either inguinal swellings in a new born or infant, or primary amenorrhoea in an adolescent. CAIS is commonly diagnosed in one of these clinical scenarios, although recently prenatal diagnosis has been reported. We present a case of a phenotypically female infant with an inguinal swelling, which was biopsied and exposed as testicular tissue, doing the diagnosis of CAIS. A review of the literature on this disorder is made.

Complete Androgen Insensitivity Syndrome and Literature Review / Síndrome da insensibilidade androgênica completa e revisão de literatura

BACKGROUNG: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as "testicular feminization". It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. The main clinical presentation in childhood is the presence of bilateral inguinal hernia in phenotypically female subjects. Incidence of androgen insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. CASE SUMMARY: We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. CONCLUSION: Investigation of CAIS should be standard in pre-pubertal girls with bilateral inguinal hernia, genetic techniques involving X chromatin or Y chromosome tests present the best choices.

INTRODUÇÃO: A síndrome da insensibilidade androgênica completa (SIAC) é relatada desde 1923, mas foi em 1953 que ficou conhecida como "feminilização testicular". É uma doença genética recessiva rara, ligada ao cromossomo X, causando diversas mutações no receptor de androgênio. A principal apresentação clínica na infância é a presença de hérnia inguinal bilateral em indivíduos fenotipicamente femininos com uma incidência estimada de 0,8% a 2,4%. Apresentamos um caso de insensibilidade androgênica completa, com revisão de literatura dos métodos diagnósticos pré operatórios. Relato do Caso: Apresentamos uma criança de 3 anos e 6 meses de idade com fenótipo feminino, nascida em São Paulo, Brasil diagnosticada com síndrome da insensibilidade androgênica completa, durante a cirurgia de herniorrafia inguinal bilateral e apresentamos potenciais alternativas diagnósticas a fim de evitar esse tipo de surpresa durante a cirurgia. CONCLUSÃO: Em meninas pré-puberes, portadoras de hérnia inguinal bilateral, a pesquisa de SIAC se faz necessária, técnicas genéticas que utilizam a pesquisa da cromatina X ou do cromossomo Y seriam as melhores escolhas.

Dental Management in a Patient with Congenital Insensitivity to Pain with Anhidrosis : A Case Report / 대한소아치과학회지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disorder; affected patients are characterized by inability to feel pain and to sweat over the entire body, as well as by mental retardation. Because, in the oral examination, no specific findings on soft or hard tissue may be found except possible lesions due to self-mutilation, early recognition and diagnosis are essential for these patients. Pediatric dentists must be aware of the clinical manifestations and treatment considerations related to uncontrolled body temperature, tactile hyperesthesia and lack of pain reflex. In this case report, dental management of CIPA was suggested by presenting a 6-year follow-up of young patient.