Abstract Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. , (OC) Brazil crosssectional cross sectional 146 BDCA (BDCA 200 201 selection 202 considered 98 nonsyndromic, nonsyndromic non syndromic, non-syndromic 46 SOC, (SOC) 1 forms 85 8 5 8. Notably 37.1 371 37 (37. vs 2 0.0015. 00015 0.0015 . 0 0015 0.0015) 73 7 3 7. 107 10. 0.0581. 00581 0.0581 0581 0.0581) origin group population access (OC 14 20 9 4 (SOC 37. (37 0001 0.001 001 0058 0.058 058 (3 000 0.00 00 005 0.05 05 ( 0.0 0.

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines. alphaNacetylglucosaminidase, alphaNacetylglucosaminidase alpha N acetylglucosaminidase, acetylglucosaminidase alpha-N-acetylglucosaminidase sulphate features 1 Brazil 72 7 2 7. identified 23 3 2- aggressiveness four decade walk Furthermore progresses 50 organomegaly problems systems guidelines 5

Resumo Antecedentes A fenilcetonúria (PKU) é um erro inato do metabolismo causado pela atividade deficiente da fenilalanina hidroxilase. No Brasil, o Programa Nacional de Triagem Neonatal permite o tratamento precoce de pacientes com PKU, o que os impede de desenvolver danos neurológicos e deficiências intelectuais graves. No entanto, já foi descrito que de 20 a 30% dos pacientes tratados precocemente com PKU apresentam déficits cognitivos focais, incluindo déficits na memória de trabalho, velocidade de processamento e sintomas psiquiátricos como ansiedade, depressão e Transtorno de Déficit de Atenção e Hiperatividade (TDAH). Neste sentido, testes neuropsiquiátricos e cognitivos são componentes importantes no cuidado destes pacientes. Atualmente, não existe um compêndio científico ou recomendações de ferramentas validadas em português para avaliar a saúde mental em pacientes brasileiros com PKU. Objetivo Recomendar ferramentas validadas localmente para avaliar a qualidade de vida e aspectos neuropsicológicos de pacientes com PKU. Métodos Seis especialistas brasileiros discutiram as ferramentas mais apropriadas com base em suas experiências clínicas, a viabilidade de realizar as avaliações na rotina clínica, e o acesso às ferramentas na saúde pública. Antes da reunião, foi realizada uma revisão independente da literatura para identificar as ferramentas validadas no Brasil, utilizando as bases de dados MEDLINE e Scielo. Resultados Os especialistas recomendaram nove ferramentas para avaliar a qualidade de vida (Peds-QL, SF-36 ou WHOQOL-bref), função executiva (BRIEF ou Bayley-III), QI (SONR 2½-7[a] ou WASI) e TDAH (MTA-SNAP-IV e ASRS). Conclusões Estes instrumentos podem ser facilmente incorporados na prática clínica e melhorar a qualidade dos cuidados multidisciplinares dos pacientes com PKU. (PKU hidroxilase Brasil graves entanto 2 30 focais trabalho ansiedade TDAH. . (TDAH) sentido Atualmente clínicas pública reunião Scielo PedsQL, PedsQL Peds QL, QL (Peds-QL SF36 SF 36 SF-3 WHOQOLbref, WHOQOLbref WHOQOL bref , WHOQOL-bref) BRIEF BayleyIII, BayleyIII Bayley III Bayley-III) SONR 2½7a 2½ 7 2½-7[a WASI MTASNAPIV MTA SNAP IV ASRS. ASRS ASRS) 3 (TDAH SF3 SF- WHOQOL-bref Bayley-III

Abstract Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them from developing severe neurological damage and mental disabilities. However, between 20 and 30% of early-treated patients with PKU present focal cognitive deficits, including deficits in working memory, processing speed, and psychiatric symptoms such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD). Therefore, age-specific neuropsychiatric and cognitive tests are important components of PKU patient care. To date, there are no officially approved guidelines or recommendations of tools in Portuguese validated for use in Brazil that could be applied to assess these parameters in patients with PKU. Objective To recommend tools validated for use in Brazil that can be used in daily clinical practice to assess quality of life and neuropsychological outcomes in patients with PKU. Methods Six Brazilian experts discussed about eligible tools based on their clinical experience, the feasibility of their use in clinical routines, and their availability in public health services. Before the meeting, an independent review of the literature was conducted to identify the currently validated tools in Brazil, using the MEDLINE and SciELO databases. Results The experts recommended nine tools to assess quality of life (Peds-QL, SF-36 or WHOQOL-bref), executive function (BRIEF or Bayley-III), IQ (SONR 2½-7[a] or WASI) and ADHD (MTA-SNAP-IV and ASRS). Conclusions These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU. (PKU hydroxylase disabilities However 2 30 earlytreated treated memory speed anxiety depression ADHD. . (ADHD) Therefore agespecific age specific date experience routines services meeting databases PedsQL, PedsQL Peds QL, QL (Peds-QL SF36 SF 36 SF-3 WHOQOLbref, WHOQOLbref WHOQOL bref , WHOQOL-bref) BRIEF BayleyIII, BayleyIII Bayley III Bayley-III) SONR 2½7a a 2½ 7 2½-7[a WASI MTASNAPIV MTA SNAP IV ASRS. ASRS ASRS) 3 (ADHD SF3 SF- WHOQOL-bref Bayley-III

Abstract INTRODUCTION: Newborn who had Zika vírus but did not show microcephaly at birth may have neuropsychomotor development problems. We aimed to evaluate the developmental and anthropometric milestones of asymptomatic children whose mothers had Zika during pregnancy in Northeastern Brazil in 2015 and 2016. METHODS: We conducted a descriptive cross-sectional case series study of children in Fortaleza born without microcephaly whose mothers had Zika during pregnancy. Home visits were undertaken to evaluate the developmental milestones and gather anthropometric data of the children and to conduct semi-structured interviews with the mothers to identify their socioeconomic and gestational profiles and assess the newborns after birth. RESULTS: In total, 30 cases were identified. Of these, 17 children and their mothers participated in the study. The median age of the mothers at the time of delivery was 26 years. All were symptomatic, and TORCH was negative. At the time of the home visit, all had growth profiles suitable for their age. However, nearly all children (15/17, 88.2%) presented at least one developmental delay, considering their age group. CONCLUSIONS: There were late changes in the neuropsychomotor development of children born to mothers who had Zika during pregnancy, suggesting the need for specialized medical follow-ups.

Resumo A emergência provocada na saúde pública internacional por causa do vírus Zika trouxe à tona a discussão do aborto em casos de síndrome congênita de Zika. Portanto, propomos a realização de uma revisão bibliográfica sobre o aborto nesses casos. Foram pesquisados cinco bancos de dados utilizando os seguintes termos: aborto, aborto espontâneo, e zika, com interposição do operador booleano “E”. Na literatura selecionada, encontramos referências à falta de informações sobre os riscos e a gravidade da síndrome congénita de Zika, bemcomo ao grande sofrimento psicológico de mulheres grávidas e ao risco de aborto inseguro como justificativa para o aborto em casos de síndrome congênita de Zika. No entanto, é necessário ter testes disponíveis que possam diagnosticar, no primeiro trimestre da gravidez, que o feto foi afetada pelo vírus, e que ele pode ter limitações importantes, para subsidiar a discussão qualificada sobre o aborto nesses casos.

Abstract The emergency in international public health caused by the Zika virus gave rise to the discussion about abortion in cases of congenital Zika virus syndrome (CZS). Therefore, we propose to carry out a bibliographic review on abortion in these cases. Five databases were searched using the following terms: abortion, miscarriage, and zika, with the interposition of the Boolean operator “AND.” In the selected literature, we found references to the lack of information concerning the risks and severity of CZS, to the great psychological distress suffered by pregnant women, and to the risk of unsafe abortions as a justification for abortion in cases of CZS. However, it is necessary to have available tests that could diagnose, in the first trimester of pregnancy, that the fetus has been affected by the virus, and that it may have important limitations, in order to subsidize the qualified discussion about abortion in these cases.

Resumo Objetivo: descrever resultados da triagem auditiva em crianças com síndrome congênita pelo vírus Zika (SCZ) atendidas em Fortaleza, Ceará, Brasil. Métodos: estudo transversal descritivo envolvendo crianças com SCZ atendidas durante o II Mutirão de Zika, em Fortaleza, em dezembro de 2016; os exames realizados na triagem auditiva foram imitanciometria, emissões otoacústicas transientes (EOAT), reflexos acústicos e reflexo cócleo-palpebral (RCP). Resultados: foram incluídas 45 crianças com idade média de 10 meses. Destas, 44 realizaram triagem timpanométrica, das quais 16 se apresentaram dentro da normalidade na orelha direita e 22 na orelha esquerda. Entre as 43 crianças avaliadas pelas EOAT, 30 “passaram” nas duas orelhas, nove “falharam” nas duas orelhas e quatro “falharam” em uma orelha; 13/43 falharam, sendo necessário repetir a triagem. Das 43 crianças avaliadas pelo RCP, 37 apresentaram respostas presentes. Conclusão: a maioria das crianças apresentou função coclear íntegra e alterações de orelha média compatíveis com a faixa etária.

Abstract Objective: to describe the results of hearing screening performed in children with Congenital Zika Virus Syndrome (CZS) in Fortaleza, Ceará, Brazil. Methods: this was a descriptive cross-sectional study involving children with CZS receiving health care in Fortaleza, 2016; the hearing screening tests performed were immittance audiometry, transient otoacoustic emissions (TOAE), acoustic reflexes, and cochleopalpebral reflex (CPR). Results: The study included 45 children with an average age of 10 months. 44 of them underwent tympanometric screening, with 16 of these having the right ear within the normal range and 22 having the left ear within the normal range. Among the 43 children evaluated by TOAE, 30 "passed" in both ears, nine "refered" in both ears and four "refered" just in ear; 13/43 "refered" and needed to repeat screening. 43 children evaluated by CPR, 37 showed responses. Conclusion: most of the children evaluated had completed cochlear function and middle ear results refer in compatible with their age range.

Resumen Objetivo: describir los resultados de un cribado auditiva en niños con síndrome congénito del virus Zika (SCZ) en Fortaleza, Ceará, Brasil. Métodos: estudio transversal donde participaron niños con SCZ atendidos en Fortaleza, 2016; fueron evaluados mediante immittanciometría, emisiones otoacústicas transitorias (TEOAE), reflejos acústicos y reflejo cocleo-párpado. Resultados: 45 niños con una edad media de 10 meses; entre las 44 orejas del lado derecho, 16 niños se encontraban normal y 28 fallaron a la detección timpanométrica; para el oído izquierda, 22 niños estaban dentro del rango normal y 22 presentaban fallas; entre los 43 niños evaluados por TEOAE, 30 "pasaron" en ambas orejas, nueve "fallaron" en ambas y cuatro "fallaron" en una; 13/43 fallaron, necesitando repetir la clasificación; de los 43 niños evaluados mediante RCP, 37 presentaron las respuestas actuales. Conclusión: la mayoría de los niños tenían una función coclear completa y cambios en el oído medio compatibles con el grupo de edad.

Resumo Objetivo: descrever resultados da triagem auditiva em crianças com síndrome congênita pelo vírus Zika (SCZ) atendidas em Fortaleza, Ceará, Brasil. Métodos: estudo transversal descritivo envolvendo crianças com SCZ atendidas durante o II Mutirão de Zika, em Fortaleza, em dezembro de 2016; os exames realizados na triagem auditiva foram imitanciometria, emissões otoacústicas transientes (EOAT), reflexos acústicos e reflexo cócleo-palpebral (RCP). Resultados: foram incluídas 45 crianças com idade média de 10 meses. Destas, 44 realizaram triagem timpanométrica, das quais 16 se apresentaram dentro da normalidade na orelha direita e 22 na orelha esquerda. Entre as 43 crianças avaliadas pelas EOAT, 30 “passaram” nas duas orelhas, nove “falharam” nas duas orelhas e quatro “falharam” em uma orelha; 13/43 falharam, sendo necessário repetir a triagem. Das 43 crianças avaliadas pelo RCP, 37 apresentaram respostas presentes. Conclusão: a maioria das crianças apresentou função coclear íntegra e alterações de orelha média compatíveis com a faixa etária.

Abstract Objective: to describe the results of hearing screening performed in children with Congenital Zika Virus Syndrome (CZS) in Fortaleza, Ceará, Brazil. Methods: this was a descriptive cross-sectional study involving children with CZS receiving health care in Fortaleza, 2016; the hearing screening tests performed were immittance audiometry, transient otoacoustic emissions (TOAE), acoustic reflexes, and cochleopalpebral reflex (CPR). Results: The study included 45 children with an average age of 10 months. 44 of them underwent tympanometric screening, with 16 of these having the right ear within the normal range and 22 having the left ear within the normal range. Among the 43 children evaluated by TOAE, 30 "passed" in both ears, nine "refered" in both ears and four "refered" just in ear; 13/43 "refered" and needed to repeat screening. 43 children evaluated by CPR, 37 showed responses. Conclusion: most of the children evaluated had completed cochlear function and middle ear results refer in compatible with their age range.

Resumen Objetivo: describir los resultados de un cribado auditiva en niños con síndrome congénito del virus Zika (SCZ) en Fortaleza, Ceará, Brasil. Métodos: estudio transversal donde participaron niños con SCZ atendidos en Fortaleza, 2016; fueron evaluados mediante immittanciometría, emisiones otoacústicas transitorias (TEOAE), reflejos acústicos y reflejo cocleo-párpado. Resultados: 45 niños con una edad media de 10 meses; entre las 44 orejas del lado derecho, 16 niños se encontraban normal y 28 fallaron a la detección timpanométrica; para el oído izquierda, 22 niños estaban dentro del rango normal y 22 presentaban fallas; entre los 43 niños evaluados por TEOAE, 30 "pasaron" en ambas orejas, nueve "fallaron" en ambas y cuatro "fallaron" en una; 13/43 fallaron, necesitando repetir la clasificación; de los 43 niños evaluados mediante RCP, 37 presentaron las respuestas actuales. Conclusión: la mayoría de los niños tenían una función coclear completa y cambios en el oído medio compatibles con el grupo de edad.

OBJETIVO: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. MÉTODOS: Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. RESULTADOS: Foram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. CONCLUSÃO: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país.

OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ;±20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

A síndrome de Hadju-Cheney é uma doença genética caracterizada por dismorfismos craniofaciais e alterações ósseas responsáveis pelo fenótipo da doença. As alterações renais, como cistos renais corticais, refluxo vesico - ureteral e falência renal, são raramente relatadas, mas são incluídas como apresentações menos comuns. O diagnóstico genético ainda não está disponível e a patogênese é relacionada a mutações no gene NOTCH. Os autores relatam um caso de um homem de 26 anos; porém, com características fenotípicas de um paciente pediátrico. Ele se apresentou com síndrome nefrótica, hipertensão arterial, cistos renais corticais e insuficiência renal aguda requerendo hemodiálise. A biopsia renal evidenciou glomeruloesclerose focal e segmentar e o tratamento para esse paciente foi de suporte com terapia hemodialítica. O diagnóstico da síndrome de Hadju-Cheney foi dado durante investigação do quadro renal.

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.

Relatam-se os casos de dois irmãos consanguíneos com síndrome de Sjögren- Larsson, enfatizando a importância clínica do exame oftalmológico. BPLS, masculino, 11 anos e MBLS, feminino, 10 anos, irmãos de pais não-consanguíneos, apresentando ictiose congênita, diplegia espástica e retardo mental. Ao exame oftalmológico, apresentavam miopia, fotofobia, baixa acuidade visual. A fundoscopia, presença de cristais branco-amarelados em área foveal e parafoveal em ambos os olhos. Aconselhamento genético foi realizado. O manejo foi de suporte. A Síndrome de Sjögren-Larsson é uma rara doença autossômica recessiva em que há 100% de penetrância. Síndrome de Sjögren-Larsson é classicamente caracterizada por ictiose, espasticidade e deficiência mental. A doença é causada por mutações no gene aldeído desidrogenase. As alterações oculares observadas são geralmente bilaterais, cristais branco-amarelados em área retiniana, que aparecem nos dois primeiros anos de vida e que vão aumentando em número com a idade. As anormalidades oculares não têm relação com a severidade da ictiose ou com as anormalidades neurológicas. Acredita-se que as lesões oftalmológicas sejam um sinal patognomônico da síndrome. É necessário enfatizar a importância do diagnóstico precoce e possibilidades de tratamento dietético.

Sjogren - Larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. The disease is caused by mutations in the aldehyde dehydrogenase gene. The ocular manifestations are highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases whit age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. We report the clinical characteristics and ocular manifestations associated with the Sjögren-Larsson syndrome in two siblings, emphasizing the clinical importance of the ophthalmological examination of the Sjögren-Larsson syndrome. BPLS, a eleven year old boy and MPLS, a ten year old girl from non-consanguinous parents, presenting congenital ichthyosis, spastic diplegia and mental retardation. Miopia, fotofobia, subnormal visual acuity and glistening yellow-white crystalline deposits that were located in the foveal and parafoveal area were found in the ophthalmologic examination.

OBJETIVOS: identificar a percepção e os mecanismos de enfrentamento utilizados por pais frente à ambigüidade genital de seus filhos em suas diversas etapas evolutivas. MÉTODOS: estudo qualitativo, baseado nos relatos de 15 pais, todos de diferentes famílias, sobre seus anseios no desenvolvimento da criança. Realizado no ambulatório de patologias endócrino-genéticas do Hospital Geral César Cals, no Ceará, em 2004. RESULTADOS: as categorias que emergiram através do discurso dos sujeitos foram: o medo e a ansiedade, e os mecanismos de enfrentamento foram: a negação; a fuga; a regressão/projeção e a racionalização. Observou-se que as tensões e angústias no período neonatal são expressas através do medo da morte, da doença incurável e dos medicamentos. No período infantil, do procedimento cirúrgico (genitália ambígua) e da sexualidade (homossexualismo). Na projeção da fase puberal e adulta há o temor da marginalização, do preconceito, da homossexualidade e da infertilidade. As angústias relatadas foram de quem seria a culpa, a definição sexual (ambigüidade) e a necessidade do segredo. CONCLUSÕES: a genitália ambígua consiste em uma patologia de alta complexidade, que desestabiliza a harmonia psicológica familiar. Nas situações de ambigüidade genital, a detecção e desmistificação dos medos e anseios dos pais devem fazer parte do plano terapêutico.

OBJECTIVES: to identify how parents perceive and face genital ambiguity in their children during different development phases. METHODS: qualitative study based on the reports of 15 parents of different families on their children's development expectations. Performed at the clinic of endocrinologic and genetic diseases of the Hospital Geral César Cals of Ceará in 2004. RESULTS: subjects reported: fear and anxiety, and the feelings involved in the way they handled the condition were: denial; evasion; regression/projection and rationalization. The tension and anguish noted in the neonatal period are expressed by the fear of death, incurable disease and medication. During childhood, of the surgical procedure (ambiguous genitalia) and sexuality (homosexuality). During puberty and adulthood there's the fear of marginalization, prejudice, homosexuality and infertility. There is anguish related to pointing at the guilty party, sexual definition (ambiguity) and the need for secrecy. CONCLUSIONS: ambiguous genitalia is a highly complex condition affecting the family psychological balance. In situations of genital ambiguity determining and demystifying fears and expectations should be part of the therapeutic plan.