Urinary continence and excellent cosmetic appearance with adequate exteriorization of the vaginal and urethral openings can be achieved in most children with urogenital sinus anomaly treated with partial urogenital sinus mobilization.

RESUMOCom o objetivo de conhecer a estatura final de indivíduos com diabetes mellitus do tipo 1 (DM1) e possíveis fatores intervenientes sobre o crescimento foram avaliados 72 pacientes, diagnosticados na infância ou iní-cio da adolescência. O grupo foi acompanhado no Serviço de Endocrinologia do HC/UFMG. A idade média (±DP) era 21,2±3,2 anos e o tempo de doença 11,9±5,7 anos. A estatura final foi 159,5±8,1cm (escore z= -1,23±1,05), sendo 156,7±6,0cm para o sexo feminino (n= 53) e 167,5±8,2cm para o sexo masculino (n= 19). O escore z foi -1,16±0,99 para o sexo feminino e -1,42±1,25 para o masculino. A estatura final dos pacientes comparada à curva de referência do NCHS mostrou que 88,9% deles se apresentavam, anormalmente, com estatura abaixo da média. Houve, também, redução de 0,5 escore z na estatura final (-1,08±1,23) em relação à estatura do ano de diagnóstico (-0,53±0,77), num subgrupo de 23 pacientes (p= 0,01). Em outro subgrupo (n= 22), 15 apresentavam mau controle metabólico com hemoglobina glicosilada de 13,1±1,0% e sete, controle satisfatório, com hemoglobina glicosilada de 10±0,8%. Houve comprometimento da estatura final desse primeiro grupo (mau controle) em relação ao segundo (escore z= -1,83±0,78 vs. -0,83±1,07; p= 0,02). Concluímos que nossos resultados são compatíveis com prejuízo na estatura final dos pacientes diabéticos avaliados em relação à população geral e parecem estar, também, relacionados ao controle metabólico ruim. ABSTRACTThe final height of 72 patients with DM1 followed in the Endocrine Service at Hospital das Clínicas of Universidade Federal de Minas Gerais was evaluated. DM1 began before puberty was completed. Mean age was 21.2±3.2 years and they had 11.9±5.7 years of disease. Mean final height of the group was 159.5±8.1cm (z score= -1.23±1.05), 156.7± 6.0cm for female (n= 53) and 167.5±8.2cm for male (n= 19). The z scores were -1.16±0.99 for female and -1.42±1.25 for male. The comparison of patients final height curve with that from the NCHS shows that the stature of 88.9% of diabetics was abnormally below the mean reference. A reduction of 0.5 SD was observed in final height (-1.08±1.23) in relation to height at the year of diagnosis (-0.53±0.77) in a subset of 23 patients (p= 0.01). A group with poor metabolic control (n= 15; glycosylated hemoglobin of 13.1±1.0%) showed impaired final height results (z score= -1.83±0.78 vs. -0.83±1.07; p= 0.02) when compared to the better-controlled group (n= 7; glycosylated hemoglobin = 10±0.83%). We conclude that our results support the notion that DM1 has a detrimental effect on the final stature of these patients, which is also related to the status of metabolic control.

Laron's syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands' samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.Patients with LS have characteristic biochemical features, such as high (or normal) serum level of GH and low IGF1 concentration (Laron, 2004;Laron et al., 2012). Clinically it is characterized by dwarfism, obesity, small genitalia in the boys, and severe hypoglycemia. Patients present a typical head configuration, a small face and a protruding forehead, resulting in a saddle nose. Their voices are highpitched and they are sparse haired. Phenotypically they re-

Background Testicular adrenal rest tumors (TARTs) leading to primary gonadal failure are the main etiology of infertility in congenital adrenal hyperplasia (CAH). We aimed at identifying the evolution of TART and related findings in young CAH patients. Methods Twelve male patients (3–23 years old) with 21-hydroxilase deficiency (11 with classic salt-wasting form) were included. Testicular ultrasonography (US) was performed in two moments, by a single blinded specialist in pediatric diagnostic imaging. Tumor progression was classified according to the Response Evaluation Criteria in Solid Tumors (RECIST). The clinical and laboratory data were retrieved from medical records. Serum 17-OH-progesterone (17OHP) and androstenedione concentrations were evaluated during the whole period of follow-up, from the CAH diagnosis. A logistic regression model with repeated measures was developed for the analysis. Results The prevalence of TART was 41.6% (n = 5) in the initial US evaluation and 66.6% (n = 8) after 6 years of follow-up. Tumor progression was detected in 4 of the 5 patients, and 1 presented with a stable tumor. Three patients presented with new tumors in the second evaluation. Most of the patients (n = 11) were pubertal, including a 7-year-old child with TART who presented with central precocious puberty. At regression analysis, it was observed that an inadequate hormonal control led to a 16 times greater chance of a patient to present with TART (OR = 16.08; confidence interval [CI] 95% = 2.38–108.81; p = 0.004). Conclusions We found a high prevalence of progressive TART in young pubertal subjects. US testicular screening should help in improving therapeutic optimization in CAH patients to reduce future impairment in fertility.