Abstract Objective It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. Methods The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. Results A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. Conclusions Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing. assignment 13 service followup. followup follow up. up follow-up included 7 5 females However gonads, gonads gonad s , gonad(s) ultrasound genitalia 46 58 (5 % 1 12 (1 orientation Hyperplasia gonad(s 4 (

Abstract Objective Evaluate the level of information of pediatricians about the diagnosis and management of cryptorchidism. Method A cross-sectional observational study was conducted using a form via the "Google Forms" platform. The study population included pediatricians and pediatric residents associated with the Brazilian Society of Pediatrics. Seven hundred twenty-eight responses were recorded and analyzed using IBM SPSS v21. Results 728 valid responses were obtained. Of these answers, only 20.5 % answered that the physical examination was sufficient for the diagnosis, and 79.4 % responded that they requested ultrasound as the best test to aid in diagnosing cryptorchidism. When questioned about the ideal age for referring a patient with cryptorchidism, the survey recorded 56.3 % of the responses defending the correct age as six months old, 30.2 % shortly after birth, and 13.2 % at two years old. Other topics were addressed in the form, such as the frequency of evaluation of testicular position and investigation for DDS, among others. Still, the answers to these questions were compatible with current manuals and guidelines on cryptorchidism. Conclusion It is evident that the understanding of the professionals consulted about the diagnosis and management of cryptorchidism needs to be updated with the current practices adopted and that pediatricians, in general, must maintain periodic programs on this subject. Therefore, this topic should be part of a continuing education program with pediatric surgery. crosssectional cross sectional Google Forms platform Pediatrics twentyeight twenty eight v21 v 72 obtained 205 20 5 20. 794 79 4 79. 563 56 3 56. old 302 30 2 30. birth 132 13 13. DDS others Still general subject Therefore surgery v2 7 1

Abstract Objective: To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with Williams-Beuren Syndrome (WBS). Methods: This is a multicenter, retrospective, and longitudinal study, data were collected from the medical records of boys and girls with a confirmed diagnosis of WBS in three large university centers in the state of Sao Paulo, Brazil. Growth charts stratified by gender and age in years were developed using LMSchartmaker Pro software. The LMS (Lambda Mu Sigma) method was used to model the charts. The quality of the settings was checked by worm plots. Results: The first Brazilian growth charts for weight-for-age, height-for-age, and BMI-for-age stratified by gender were constructed for WBS patients aged 2 to 18 years. Conclusion: The growth charts developed in this study can help to guide family members and to improve the health care offered by health professionals. Objective weightforage, weightforage weight age, weight-for-age heightforage, heightforage height height-for-age BMIforage BMI 1 WilliamsBeuren Williams Beuren WBS. . (WBS) Methods multicenter retrospective Paulo Brazil software Lambda Sigma plots Results Conclusion professionals (WBS

ABSTRACT Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics. Subjects and methods: The study included all patients with a clinical presentation of WS following up between 1991 and 2022 with early-onset diabetes mellitus and other WS signs and symptoms. A retrospective analysis was conducted, including patients’ age, sex, consanguinity, age at symptom onset, diagnosis of diabetes mellitus, optic atrophy, diabetes insipidus, neurological and psychiatric disorders, hearing loss, urinary disorders, hypogonadism, and WFS1 molecular analysis. Results: Eight patients were identified, all of whom were diagnosed with diabetes mellitus at an average age of 3.7 years. Optic atrophy, diabetes insipidus, and hearing loss were common, while psychiatric and neurological alterations were observed in some cases. Genetic analysis revealed pathogenic variants in homozygosity or compound heterozygosity. The most frequent variant was p. Val412Serfs29, present in five of the seven families. Conclusions: This study represents the second-largest Brazilian sample of WS and is the first cohort from a single center in Southeast Brazil. The patients had an early, severe, and complete clinical presentation. The genetic variants identified were consistent with previous literature descriptions. The variant p. Val412Serfs29 was particularly common in this cohort, highlighting its relevance in the region. Objective WS, , (WS) characteristics methods 199 202 earlyonset early onset symptoms conducted sex consanguinity atrophy insipidus disorders hypogonadism WFS Results 37 3 7 3. years cases heterozygosity p ValSerfs Val Serfs families Conclusions secondlargest second largest Brazil severe descriptions Val412Serfs2 region (WS 19 20 Val412Serfs 1 2

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL. Objective . (TS) methods Observational analytical crosssectional cross sectional SF36 SF 36 SF-3 Results (QoL however it SF36. 36. Conclusion (TS SF3 3 SF-

ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20–40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies. BACKGROUND nonobstructive non obstructive OBJECTIVE SETTING crosssectional cross sectional Brazil (Brazil METHODS 2040 20 40 20–4 analysis RESULTS 10 (KS 13%, 13 13% , (13%) ( NRA NR NR5A mutation 4%, 4% (4%) 8%, 8 8% (8%) 7 (1 height span LH (LH FSH (FSH absent . group) groups CONCLUSION 204 20– (13% (4% (8% (13 (4 (8

Abstract Objective Population-level monitoring of body composition requires accurate, biologically-relevant, yet feasible methods for estimating percent body fat (%BF). The aim of this study was to develop and cross-validate an equation for %BF from Body Mass Index (BMI), age, and sex among children with intellectual disability (ID). This study further aimed to examine the performance of an existing BMI-based equation (Deurenberg equation) for %BF in children with ID. Method Participants were 107 children (63 boys; aged 6-15 years) with ID randomly allocated to development (n= 81) and cross-validation (n= 26) samples. Dual-Energy X-Ray Absorptiometry provided the criterion %BF. Results The model including BMI, age, and sex (0 = male; 1 = female) had a significant goodness-of-fit in determining %BF (p< 0.001; R2= 0.69; SEE =5.68%). The equation was: %BF = - 15.416 + (1.394 × BMI) + (4.538 × age) - (0.262 × age2) + (5.489 × sex). The equation was cross-validated in the separate sample based on (i) strong correlation (r = 0.82; p< 0.001) and non-significant differences between actual and predicted %BF (28.6 ± 9.6% and 30.1 ± 7.1%, respectively); (ii) mean absolute error (MAE) = 4.4%; and (iii) reasonable %BF estimations in Bland-Altman plot (mean: 1.48%; 95% CI: 12.5, -9.6). The Deurenberg equation had a large %BF underestimation (mean: -7.1%; 95% CI: 5.3, -19.5), significant difference between actual and estimated %BF (28.6 ± 9.7% and 21.5 ± 7.0%, respectively; p< 0.001), and MAE = 8.1%. Conclusions The developed equation with BMI, sex, and age provides valid %BF estimates for facilitating population-level body fat screening among children with ID.

Abstract BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.

ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20–40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies. BACKGROUND nonobstructive non obstructive OBJECTIVE SETTING crosssectional cross sectional Brazil (Brazil METHODS 2040 20 40 20–4 analysis RESULTS 10 (KS 13%, 13 13% , (13%) ( NRA NR NR5A mutation 4%, 4% (4%) 8%, 8 8% (8%) 7 (1 height span LH (LH FSH (FSH absent . group) groups CONCLUSION 204 20– (13% (4% (8% (13 (4 (8

Resumo Otimizar o ganho da massa óssea durante a infância e adolescência pode auxiliar na prevenção de doenças ósseas em idades mais avançadas. Objetivou-se verificar a densidade mineral óssea (DMO) e conteúdo mineral ósseo (CMO) em adolescentes do sexo feminino. Foi realizado um estudo transversal com 68 meninas adolescentes (12 a 17 anos), divididas em dois grupos: jogadoras de handebol (HG: n=29) e grupo controle (CG: n=39). DMO e CMO de corpo inteiro (TB), corpo total menos cabeça (TBLH), coluna lombar (L1-L4), colo do fêmur (FN) e triângulo de Ward’s (WT) e respectivos escore Z foram medidos usando a absorciometria por dupla emissão de raios-x (DXA). Também foi avaliada a maturidade sexual, menarca, PVC e ingestão de cálcio e vitamina D. As jogadoras de handebol mostraram valores de CMO, DMO e respectivos escores Z do corpo inteiro, TBLH, fêmur, quadril e coluna lombar significativamente maiores quando comparados ao grupo controle. Quando ajustados para a massa isenta de gordura o grupo HG apresentou valores maiores para o CMO do fêmur e DMO do fêmur e TBLH; e nos valores de escore Z de todos os sítios ósseos, exceto o quadril, quando comparadas ao CG. Concluímos que as jogadoras de handebol têm valores de massa óssea significativamente maiores comparadas ao grupo de meninas da mesma idade.

Abstract Optimizing bone mass gain during childhood and adolescence may help prevent bone diseases in advanced ages. The aim of this study was to verify the bone mineral density (BMD) and bone mineral content (BMC) in female adolescent’s handball players. This is a cross-sectional study where 68 female adolescents (12–17 years) were allocated into two groups: handball players (n = 29) (HG) and control group (n = 39) (CG). BMC and BMD from total body (TB), total body less head (TBLH), lumbar spine (L1–L4), femoral neck (FN), Ward’s triangle (WT) and respectively Z-scores were measured using dual-energy X-ray absorptiometry (DXA). Sexual maturity, menarche, PHV, time of sun exposure, physical activity level and Calcium and vitamin D intake were assessed. The HG showed significantly higher BMC, BMD as well Z-scores values (p≤0.05) of total body, TBLH, femoral neck, hip and lumbar spine than the CG. When the values were adjusted for lean soft tissue (LST) the HG showed significantly higher BMC of femoral neck (p≤0.05), as well as BMD of TBLH and femoral neck (p≤0.05) and Z-score values all bone sites except hip, than the CG. We conclude that handball players have significantly higher bone mass values compared to group of girls of the same age.

Resumo Objetivos: Determinar a prevalência de hipotireoidismo congênito em crianças com TSH em papel filtro (TSH-f) entre 5 e 10 µUI/mL na triagem neonatal. Métodos: Estudo retrospectivo que incluiu crianças triadas de 2003 a 2010, com TSH-f entre 5 e 10 µUI/mL, acompanhadas nos dois primeiros anos de vida quando não houve normalização do TSH sérico. O diagnóstico de hipotireoidismo congênito foi definido como TSH sérico igual ou superior a 10 µUI/mL e início de tratamento com levotiroxina até os dois anos. Resultados: Dos 380.741 nascidos vivos triados, 3.713 (1,04%) apresentaram TSH-f entre 5 e 10 µUI/mL e, desses, 339 (9,13%) tinham hipotireoidismo congênito. Desses, 76,11% dos casos foram diagnosticados nos primeiros três meses de vida e 7,96% entre um e dois anos. Conclusão: O estudo mostra que 9,13% das crianças com TSH-f entre 5 e 10 µUI/mL desenvolveram hipotireoidismo e que em cerca de um quarto delas o diagnóstico só se confirmou após o terceiro mês de vida. Com base nesses achados, sugere-se, para descartar o hipotireoidismo congênito, o uso do ponto de corte de TSH-f de 5 µUI/mL e o acompanhamento em longo prazo dos lactentes cujo TSH sérico não tenha se normalizado.

Abstract Objectives: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10 µIU/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10 µIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10 µIU/mL and start of levothyroxine treatment up to 2 years of age. Results: Of the 380,741 live births, 3713 (1.04%) had filter paper TSH levels between 5 and 10 µIU/mL and, of these, 339 (9.13%) had congenital hypothyroidism. Of these, 76.11% of the cases were diagnosed in the first three months of life and 7.96% between 1 and 2 years of age. Conclusion: The study showed that 9.13% of the children with b-TSH levels between 5 and 10 µIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5 µIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

Objetivos: comparar o estado nutricional de meninas de nove a 17 anos na cidade de Cascavel (PR) segundo três referências para índice de massa corporal (IMC). Métodos: estudo transversal com 2759 meninas. Verificou-se o peso e a estatura obtendo-se o IMC além da avaliação da maturidade sexual e do nível socioeconômico. O estado nutricional foi classificado pelos pontos de corte do IMC propostos por Conde e Monteiro, WHO, e CDC. Resultados: as frequências dos estados nutricionais não diferiram significativamente na mesma referência para IMC por faixa etária, por nível socioeconômico e por tipo de escola. Por nível de maturidade sexual, apenas a referência da WHO apresentou valores de obesidade e sobrepeso maiores para o estadio de mamas grau 5. No entanto, quando comparadas as três referências entre si, o CDC apresentou frequências significativamente menores de sobrepeso e obesidade por faixa etária, por nível de maturidade sexual, por nível socioeconômico e por tipo de escola. Apesar das três referências apresentarem concordância entre si, esta foi maior entre os de Conde e Monteiro, e da WHO. Conclusões: a referência do CDC identificou menor percentual de meninas com sobrepeso e obesidade. As referências propostas por Conde e Monteiro e WHO apresentaram resultados semelhantes.

Objectives: to compare the nutritional status of girls aged between nine and seventeen years in the city of Cascavel (in the Brazilian State of Paraná) according to three body mass index (BMI) references. Methods: a cross-sectional study was conducted with 2759 girls. Weight and height were measured to obtain the BMI and the sexual maturity and socioeconomic status of the girls evaluated. Nutritional status was classified using the BMI cut-off points proposed by Conde & Monteiro, the WHO, and the CDC. Results: the frequencies for different nutritional states did not differ significantly when the same BMI reference was used according to age, socioeconomic status or type of school attended. In terms of sexual maturity, only the WHO reference WHO produced higher levels of obesity and overweight for girls with Stage 5 breasts. However, when the three references were compared with one another, the CDC produced significantly lower frequencies for overweight and obesity by age group, level of sexual maturity, socioeconomic status and type of school. All three references were in agreement, this was greater between Conde & Monteiro, and the WHO. Conclusions: the CDC reference identified a smaller percentage of overweight and obese girls. The references proposed by Conde & Monteiro and the WHO produced similar results.

A enzima 17β-hidroxiesteroide desidrogenase tipo 3 (17-β-HSD3) catalisa a conversão de androstenediona a testosterona nos testículos, e sua deficiência é uma forma rara de distúrbio do desenvolvimento do sexo em indivíduos 46,XY. A desordem apresenta um amplo espectro de características fenotípicas e de resultados de dosagens laboratoriais. Neste trabalho, são relatados quatro casos de deficiência da 17-β-HSD3 com cariótipo 46,XY, ambiguidade genital em diversos graus, androstenediona aumentada, testosterona diminuída, e relação testosterona e androstenediona < 0,8. Em três das pacientes, o diagnóstico foi suspeitado devido à presença de sinais de virilização na puberdade. Todos os pacientes foram criados como mulheres, e a identidade de gênero feminino foi mantida em todas elas. A heterozigose composta da mutação nova c.277+2T>G e da mutação c.277+4A>T, ambas localizadas no sítio doador de splicing do íntron 3 do gene HSD17B3, foi identificada no caso 3. Além dessas, as mutações missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln foram identificadas em homozigose pelo sequenciamento do gene HSD17B3 dos casos 1, 2 e 4, respectivamente. Arq Bras Endocrinol Metab. 2012;56(8):533-9

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46,XY karyotype and 17-β-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio < 0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. Arq Bras Endocrinol Metab. 2012;56(8):533-9

OBJETIVO: Analisar os genes AMH e AMHR2 em indivíduos com síndrome de persistência dos ductos de Müller (SPDM). PACIENTES E MÉTODO: Amostras de DNA genômico de oito pacientes com SPDM foram obtidas de leucócitos de sangue periférico. Sequenciamento direto da região codificadora e das áreas intrônicas próximas aos éxons dos genes AMH e AMHR foi realizado. RESULTADOS: As mutações p.Arg95*, p.Arg123Trp, c.556-2A>G e p.Arg502Leu no gene AMH foram identificadas em cinco pacientes e as mutações p.Gly323Ser e p.Arg407* no gene AMHR2, em dois indivíduos. As análises in silico das mutações c.556-2A>G, p.Arg502Leu e p.Arg407*, não descritas anteriormente na literatura, previram que elas são deletérias e possivelmente a causa da doença. CONCLUSÃO: Uma provável etiologia molecular foi encontrada nos oito pacientes portadores de SPDM avaliados. No gene do AMH foram identificadas quatro mutações e no AMHR2, duas mutações. Três das seis mutações encontradas são mutações novas, c.556-2A>G e p.Arg502Leu no gene AMH; e p.Gly323Ser no AMHR2. Arq Bras Endocrinol Metab. 2012;56(8):473-8

OBJECTIVE: To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian duct syndrome (PMDS). PATIENTS AND METHOD: Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. RESULTS: The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, and p.Arg502Leu were identified in five patients; and p.Gly323Ser and p.Arg407* in AMHR2 of two individuals. In silico analyses of the novel c.556-2A>G, p.Arg502Leu and p.Arg407* mutations predicted that they were harmful and were possible causes of the disease. CONCLUSION: A likely molecular etiology was found in the eight evaluated patients with PMDS. Four mutations in AMH and two in AMHR2 were identified. Three of them are novel mutations, c.556-2A>G, and p.Arg502Leu in AMH; and p.Gly323Ser in AMHR2. Arq Bras Endocrinol Metab. 2012;56(8):473-8