Insuficiencia ovárica primaria en adolescentes: revisión de la literatura a propósito de un caso clínico / Primary ovarian insufficiency in adolescents: review of the literature regarding a clinical case

El objetivo de este manuscrito es realizar una revisión y actualización de la literatura de la insuficiencia ovárica primaria (IOP) en población adolescente, a partir del diagnóstico, manejo y seguimiento de un caso clínico. La insuficiencia ovárica primaria se define como la menopausia en una mujer antes de los 40 años, acompañada de amenorrea, hipogonadismo hipergonadotrópico e infertilidad. Su prevalencia varía entre 1 a 2%, y en mujeres menores de 20 años su prevalencia es un caso de cada 10,000. Aunque se sabe que muchas afecciones pueden llevar a una IOP, la más común es la causa idiopática. La presentación clínica es diversa, y varios trastornos diferentes pueden también, llevar a esta condición. CASO CLÍNICO: Se presenta el caso de una adolescente de 17 años, previamente sana, con historia de amenorrea secundaria, no embarazada, con examen físico general y ginecológico normal. Se solicita estudio analítico complementario resultando con niveles de hormona folículo estimulante (FHS), estradiol (E2) y hormona antimülleriana (AMH) compatibles con una insuficiencia ovárica como la observada en la posmenopausia. Se inicia terapia hormonal (TH) clásica con estradiol y progesterona, siendo posteriormente reemplazada por anticoncepción hormonal combinada (AHC) oral, coincidente con el inicio de vida sexual, con respuesta favorable y sangrados regulares. La IOP tiene graves consecuencias para la salud incluyendo trastornos psicológicos como angustia, síntomas depresivos o depresión, infertilidad, osteoporosis, trastornos autoinmunes, cardiopatía isquémica, y un mayor riesgo de mortalidad. La enfermedad de Hashimoto es el trastorno autoinmune más frecuente asociado a la IOP. Su tratamiento y diagnóstico deben establecerse de forma precoz para evitar consecuencias a largo plazo. La terapia con estrógenos es la base del tratamiento para eliminar los síntomas de la deficiencia de estrógenos, además de evitar las consecuencias futuras del hipogonadismo no tratado. También el manejo debe incluir los siguientes dominios: fertilidad y anticoncepción, salud ósea, problemas cardiovasculares, función psicosexual, psicológica y neurológica, informando a los familiares y a la paciente sobre la dimensión real de la IOP y la necesidad de tratamiento multidisciplinario en muchos casos. CONCLUSIÓN: El caso presentado, pese a ser infrecuente, permite abordar de manera sistematizada el diagnostico de IOP y evaluar alternativas de manejo plausibles para evitar graves consecuencias en la salud, así como conocer respuesta clínica y de satisfacción de la adolescente.

The objective of this manuscript is to review and update the literature on primary ovarian insufficiency (POI) in an adolescent population, based on the diagnosis, management and follow-up of a clinical case. Primary ovarian insufficiency is defined as menopause in a woman before the age of 40, accompanied by amenorrhea, hypergonadotropic hypogonadism, and infertility. Its prevalence varies between 1 to 2%, and in women under 20 years of age its prevalence is one case in every 10,000. Although it is known that many conditions can lead to POI, the most common is the idiopathic cause. The clinical presentation is diverse, and several different disorders can also lead to this condition. CLINICAL CASE: The case of a 17-year-old adolescent, previously healthy, with a history of secondary amenorrhea, not pregnant, with a normal general physical and gynecological examination is presented. A complementary analytical study is requested, resulting in levels of follicle stimulating hormone (FHS), estradiol (E2) and anti-müllerian hormone (AMH) compatible with ovarian insufficiency such as that observed in postmenopause. Classic hormonal therapy (HT) with estradiol and progesterone was started, later being replaced by combined hormonal contraception (CHC), coinciding with the beginning of sexual life, with a favorable response and regular bleeding. POI has serious health consequences including psychological disorders such as distress, depressive symptoms or depression, infertility, osteoporosis, autoimmune disorders, ischemic heart disease, and an increased risk of mortality. Hashimoto's disease is the most common autoimmune disorder associated with POI. Its treatment and diagnosis must be established early to avoid long-term consequences. Estrogen therapy is the mainstay of treatment to eliminate the symptoms of estrogen deficiency, in addition to avoiding the future consequences of untreated hypogonadism. Management should also include the following domains: fertility and contraception, bone health, cardiovascular problems, psychosexual, psychological and neurological function, informing family members and the patient about the real dimension of POI and the need for multidisciplinary treatment in many cases. CONCLUSION: The case, although infrequent, allows a systematic approach to the diagnosis of POI and evaluate plausible management alternatives to avoid serious health consequences, as well as to know the clinical response and satisfaction of the adolescent.

A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.

Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) is one of the less common forms of CAH, corresponding to approximately 1% of the cases, with an estimated annual incidence of 1 in 50,000 newborns. Cases description - two phenotypically female Ecuadorian sisters, both with primary amenorrhea, absence of secondary sexual characteristics, and osteoporosis. High blood pressure was present in the older sister. Hypergonadotropic hypogonadism profile was observed: decreased cortisol and dehydroepiandrosterone sulfate (DHEAS), increased adrenocorticotropic hormone (ACTH) and normal levels of 17-hydroxyprogesterone, extremely high deoxycorticosterone (DOC) levels, and a tomography showed bilateral adrenal hyperplasia in both sisters. Consanguinity was evident in their ancestors. Furthermore, in the exon 7, the variant c.1216T > C, p.Trp406Arg was detected in homozygosis in the CYP17A1 gene of both sisters. We report a homozygous missense mutation in the CYP17A1 gene causing 17OHD in two sisters from Loja, Ecuador. According to the authors, this is the first time such deficiency and mutation are described in two members of the same family in Ecuador.

Quiste de bolsa de Rathke e hiperprolactinemia, una causa infrecuente de amenorrea primaria / Rathke cleft cysts and hyperprolactinemia, an uncommon cause of primary amenorrhea

El quiste de la bolsa de Rathke es una lesión epitelial benigna de la región selar, formada a partir de remanentes embrionarios. La mayoría de los casos son asintomáticos, aunque pudiera presentarse con cefalea, disfunción hipofisaria y trastornos visuales, muy infrecuentemente como apoplejía hipofisaria. Se presenta el caso de una paciente que, habiendo presentado amenorrea primaria, se le realiza el diagnóstico de quiste de la bolsa de Rathke con hiperprolactinemia, logrando menarquia luego del tratamiento con cabergolina.

Rathke's cyst is a benign epithelial lesion of the sellar region, formed from embryonic remnants. Most cases are asymptomatic although it could present with headache, pituitary dysfunction and visual disorders, very infrequently as pituitary stroke. We present the case of a patient who, having presented primary amenorrhea, is diagnosed with Rathke's cyst with hyperprolactinemia, achieving menarche after treatment with cabergoline.

Disgenesia gonadal pura 46 XX, una causa infrecuente de hipogonadismo: presentación de un caso / Pure gonadal dysgenesis 46 XX, an ucommon cause of hypogonadism: case presentation

El término disgenesia gonadal pura hace referencia a mujeres fenotípicas con infantilismo sexual, amenorrea primaria, hábito eunucoide y un cariotipo 46, XX o 46, XY sin anomalías cromosómicas. Puede asociarse a complicaciones como osteoporosis y síndrome metabólico, elevando el riesgo cardiovascular. Se presenta una paciente femenina de 16 años y 8 meses de edad que acude a consulta de endocrinología por presentar amenorrea primaria.

The term pure gonadal dysgenesis refers to phenotypic women with sexual infantilism, primary amenorrhea an d the eunucoid habit and a 46, XX or 46, XY karyotype without chromosomal abnormalities. It can be associated with complications such as osteoporosis and metabolic syndrome, increasing cardiovascular risk. We present a female patient of 16 years and 8 months of age who attended endocrinology clinic for presenting primary amenorrea.

Autoimmune hypothyroidism and intermittent ovarian failure - Case Report.

CASE PRESENTATION: a 35 year-old physical educator sought gynecological care for secondary amenorrhea and infertility. She denied the occurrence of similar problems in her family and referred to hypothyroidism as her only comorbidity, for which she was on levothyroxine 88µg daily. She was tested for beta-HCG, prolactin and TSH levels. She was negative for beta-HCG, and had prolactin and TSH levels of 19ng/ml and 2.04 mIU/ml, respectively. Her progesterone test was negative. The combined test (estradiol + norethisterone acetate) was positive, excluding the possibility of an anatomical cause. One month later, her blood tests were as follows: FSH 100mIU/ml, TSH 1.54mIU/ml, free T4 1.22ng/dl, and anti-TPO 261U/ml. Her FSH level was above 100 and she was diagnosed with premature ovarian failure. Reproductive treatment with donor eggs was proposed as an option. Karyotyping and a test for fragile X syndrome were ordered. A few months later the patient came to our clinic saying she was having menstrual cycles. Blood tests were as follows: FSH 9.2mIU/ml; TSH 2.21mIU/ml; and anti-TPO 14U/ml. Transvaginal ultrasound showed a normal uterus with a thin endometrium and atrophic ovaries. After two years of irregular menstrual cycles, she became amenorrheic again. She chose not to undergo assisted reproduction. This paper discusses the diagnosis of premature ovarian failure in light of current protocols and the association of this condition with diseases such as Hashimoto's thyroiditis, and looks into the difficulty of performing differential diagnosis against Savage syndrome and of offering reproductive counseling especially in cases where the menstrual cycle returns.

Primary amenorrhea associated with hyperprolactinemia in polyglandular autoimmune syndrome type II: A case report / Amenorreia primária associada com hiperprolactinemia em síndrome poliglandular autoimune tipo 2: relato de caso

Abstract Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.

Resumo A síndrome poliglandular autoimune tipo 2 (SPGA-2) é uma síndrome de imunoendocrinopatia rara caracterizada por doença de Addison autoimune associada à diabetes mellitus tipo 1 e/ou doenças tireoidianas autoimunes. Relatamos aqui o caso de uma paciente de 23 anos de idade com SPGA-2 que foi acompanhada nos ambulatórios de dermatologia e endocrinologia da Universidade Federal do Triângulo Mineiro, localizada no estado de Minas Gerais, Brasil. Primeiramente, a paciente apresentou hiperpigmentação cutânea difusa e vitiligo; posteriormente, por apresentar vômitos, hiporexia, perda ponderal, hipoglicemia, amenorreia e galactorreia, foi diagnosticada com SPGA-2. A paciente apresentou também intensa hiperprolactinemia secundária apenas ao hipotireoidismo primário. É comum o diagnóstico tardio da SPGA-2, pois a doença é rara e apresenta manifestações clínicas inespecíficas. Este relato de caso enfatiza a importância do diagnóstico e tratamento precoces como objetivo de reduzir a morbimortalidade associada a essas doenças, especialmente à doença de Addison. O presente estudo descreve um caso raro de uma paciente com SPGA-2 com amenorreia primária associada a hiperprolactinemia.

Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report.

Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.

A síndrome poliglandular autoimune tipo 2 (SPGA-2) é uma síndrome de imunoendocrinopatia rara caracterizada por doença de Addison autoimune associada à diabetes mellitus tipo 1 e/ou doenças tireoidianas autoimunes. Relatamos aqui o caso de uma paciente de 23 anos de idade com SPGA-2 que foi acompanhada nos ambulatórios de dermatologia e endocrinologia da Universidade Federal do Triângulo Mineiro, localizada no estado de Minas Gerais, Brasil. Primeiramente, a paciente apresentou hiperpigmentação cutânea difusa e vitiligo; posteriormente, por apresentar vômitos, hiporexia, perda ponderal, hipoglicemia, amenorreia e galactorreia, foi diagnosticada com SPGA-2. A paciente apresentou também intensa hiperprolactinemia secundária apenas ao hipotireoidismo primário. É comum o diagnóstico tardio da SPGA-2, pois a doença é rara e apresenta manifestações clínicas inespecíficas. Este relato de caso enfatiza a importância do diagnóstico e tratamento precoces com o objetivo de reduzir a morbimortalidade associada a essas doenças, especialmente à doença de Addison. O presente estudo descreve um caso raro de uma paciente com SPGA-2 com amenorreia primária associada a hiperprolactinemia.

An Exploratory Evaluation of the Family Meal Intervention for Adolescent Anorexia Nervosa.

Although weight restoration is a crucial factor in the recovery of anorexia nervosa (AN), there is scarce evidence regarding which components of treatment promote it. In this paper, the author reports on an effort to utilize research methods in her own practice, with the goal of evaluating if the family meal intervention (FMI) had a positive effect on increasing weight gain or on improving other general outcome measures. Twenty-three AN adolescents aged 12-20 years were randomly assigned to two forms of outpatient family therapy (with [FTFM] and without [FT]) using the FMI, and treated for a 6-month duration. Their outcome was compared at the end of treatment (EOT) and at a 6-month posttreatment follow-up (FU). The main outcome measure was weight recovery; secondary outcome measures were the Morgan Russell Global Assessment Schedule (MRHAS), amenorrhea, general psychological symptoms, and eating disorder symptoms. The majority of the patients in both groups improved significantly at EOT, and these changes were sustained through FU. Given its primarily clinical nature, findings of this investigation project preclude any conclusion. Although the FMI did not appear to convey specific benefits in causing weight gain, clinical observation suggests the value of a flexible stance in implementation of the FMI for the severely undernourished patient with greater psychopathology.

[Mayer-Rokitansky-Küster-Hauser syndrome: two cases report]. / Síndrome de Mayer-Rokitansky-Küster-Hauser. Reporte de dos casos.

Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

Evidence for prolonged and unique amenorrhea-related symptoms in women with premature ovarian failure/primary ovarian insufficiency.

OBJECTIVE: This study aims to describe premature ovarian failure (POF)/primary ovarian insufficiency (POI) symptoms experienced by women from a non-clinic-based sample of members of a POF/POI-specific support group. METHODS: Two hundred ninety women were surveyed for 6 weeks. The survey included demographics, health history, and a validated menopause-related quality-of-life questionnaire. Symptom prevalence was described. RESULTS: One hundred sixty (55%) women aged 18 to 63 years (mean [SD], 39.3 [7.3] y) responded. Age at diagnosis ranged from 10 to 39 years (median [interquartile range], 30 [24-35] y). Most respondents were white (87%), college educated (76%), and employed full time (61%). Among women reporting a history of depression (43%), 26% reported that depression occurred more than 5 years before POF/POI diagnosis. Of 29 commonly assessed menopausal symptoms, women reported a mean (SD) of 14.7 (7.4) symptoms; symptom scores did not substantially decrease with time since diagnosis, and relationship with age at diagnosis was negligible. Other common symptoms included mood swings and mental fog (>75%); hair loss, dry eyes, cold intolerance, and joint clicking (>50%); tingling in limbs and low blood pressure (∼33%); hypothyroidism (17%); hypoglycemia (16%); and gluten allergies (10%). Ninety unique symptoms were written in as free text. CONCLUSIONS: Symptom checklists created for age-appropriate postmenopausal women do not adequately capture the scope of symptoms observed in this sample. Menopausal symptoms do not seem to diminish across time in women with POF/POI, in contrast to women with age-appropriate menopause. Depression is very commonly reported in this sample, with some women clearly experiencing depression well before their diagnosis of POF/POI. Hypothyroidism in this sample is more than three times the population mean.

[Primary amenorrhea by transverse vaginal septum: a case report and review of the literature]. / Amenorrea primaria por tabique transverso vaginal inferior: reporte de un caso y revisión de la bibliografía.

The transverse vaginal septum is one of the rarest anomalies of the reproductive tract classified depending on location. It is manifested by primary amenorrhea, cyclic pain and progressive mass growth at abdominopelvic level, ultrasound and magnetic resonance imaging provides the diagnosis, location and thickness of a transverse vaginal septum, treatment is surgical. We present a case of a teenage patient with primary amenorrhea due to lower transverse vaginal septum with surgical resection and satisfactory follow-up with successful vaginal patency.

Menstruation disorders in adolescents with eating disorders-target body mass index percentiles for their resolution.

OBJECTIVE: To analyse the progression of body mass index in eating disorders and to determine the percentile for establishment and resolution of the disease. METHODS: A retrospective descriptive cross-sectional study. Review of clinical files of adolescents with eating disorders. RESULTS: Of the 62 female adolescents studied with eating disorders, 51 presented with eating disorder not otherwise specified, 10 anorexia nervosa, and 1 bulimia nervosa. Twenty-one of these adolescents had menstrual disorders; in that, 14 secondary amenorrhea and 7 menstrual irregularities (6 eating disorder not otherwise specified, and 1 bulimia nervosa). In average, in anorectic adolescents, the initial body mass index was in 75th percentile; secondary amenorrhea was established 1 month after onset of the disease; minimum weight was 76.6% of ideal body mass index (at 4th percentile) at 10.2 months of disease; and resolution of amenorrhea occurred at 24 months, with average weight recovery of 93.4% of the ideal. In eating disorder not otherwise specified with menstrual disorder (n=10), the mean initial body mass index was at 85th percentile; minimal weight was in average 97.7% of the ideal value (minimum body mass index was in 52nd percentile) at 14.9 months of disease; body mass index stabilization occurred at 1.6 year of disease; and mean body mass index was in 73rd percentile. Considering eating disorder not otherwise specified with secondary amenorrhea (n=4); secondary amenorrhea occurred at 4 months, with resolution at 12 months of disease (mean 65th percentile body mass index). CONCLUSION: One-third of the eating disorder group had menstrual disorder - two-thirds presented with amenorrhea. This study indicated that for the resolution of their menstrual disturbance the body mass index percentiles to be achieved by female adolescents with eating disorders was 25-50 in anorexia nervosa, and 50-75, in eating disorder not otherwise specified.

Menstruation disorders in adolescents with eating disorders ? target body mass index percentiles for their resolution / Distúrbios menstruais em adolescentes com transtornos alimentares ? meta de percentil de índice de massa corporal para resolução dos distúrbios menstruais

Objective To analyse the progression of body mass index in eating disorders and to determine the percentile for establishment and resolution of the disease. Methods A retrospective descriptive cross-sectional study. Review of clinical files of adolescents with eating disorders. Results Of the 62 female adolescents studied with eating disorders, 51 presented with eating disorder not otherwise specified, 10 anorexia nervosa, and 1 bulimia nervosa. Twenty-one of these adolescents had menstrual disorders; in that, 14 secondary amenorrhea and 7 menstrual irregularities (6 eating disorder not otherwise specified, and 1 bulimia nervosa). In average, in anorectic adolescents, the initial body mass index was in 75th percentile; secondary amenorrhea was established 1 month after onset of the disease; minimum weight was 76.6% of ideal body mass index (at 4th percentile) at 10.2 months of disease; and resolution of amenorrhea occurred at 24 months, with average weight recovery of 93.4% of the ideal. In eating disorder not otherwise specified with menstrual disorder (n=10), the mean initial body mass index was at 85th percentile; minimal weight was in average 97.7% of the ideal value (minimum body mass index was in 52nd percentile) at 14.9 months of disease; body mass index stabilization occured at 1.6 year of disease; and mean body mass index was in 73rd percentile. Considering eating disorder not otherwise specified with secondary amenorrhea (n=4); secondary amenorrhea occurred at 4 months, with resolution at 12 months of disease (mean 65th percentile body mass index). Conclusion One-third of the eating disorder group had menstrual disorder − two-thirds presented with amenorrhea. This study indicated that for the resolution of their menstrual disturbance the body mass index percentiles to be achieved by female adolescents with eating disorders was 25-50 in anorexia nervosa, and 50-75, in eating disorder not otherwise specified. .

Objetivo Analisar a progressão do índice de massa corporal nos transtornos alimentares e determinar o percentil para estabelecimento e resolução da doença. Métodos Estudo retrospectivo descritivo, com análise dos processos de adolescentes com transtorno alimentar. Resultados Das 62 adolescentes com distúrbio alimentar, 51 apresentavam distúrbio sem outra especificação, 10 anorexia nervosa, e uma bulimia. Vinte e uma adolescentes apresentavam distúrbios menstruais, sendo 14 amenorreia secundária, 7 irregularidades menstruais (6 distúrbio alimentar sem outra especificação e 1 bulimia). Em média, nas anoréticas: índice de massa corporal inicial - percentil 75, instalação da amenorreia secundária com um mês de doença, peso mínimo 76,6% do índice de massa corporal ideal, no percentil 4), com 10,2 meses de doença, resolução da amenorreia aos 24 meses com recuperação ponderal média de 93,4% do peso ideal. No distúrbio alimentar sem outra especificação com distúrbio menstrual (n=10), o índice de massa corporal inicial médio no percentil 85, peso mínimo, em média, 97,7% do valor de peso ideal (média no percentil 52 de índice de massa corporal), aos 14,9 meses, estabilização ponderal aos 1,6 anos, percentil médio de índice de massa corporal de 73. Na perturbação do comportamento alimentar sem outra especificação com amenorreia secundária (n=4): amenorreia secundária aos 4 meses, resolução aos 12 meses (média no percentil 65 do índice de massa corporal). Conclusão Um terço do grupo com transtornos alimentares teve distúrbios menstruais − sendo dois terços com amenorreia secundária. Este estudo indicou que, para resolução ...

[Evaluation of bone mineral density in female adolescents with eating disorders]. / Avaliação da densidade mineral óssea em adolescentes do sexo feminino com transtorno alimentar.

OBJECTIVE: To evaluate lumbar bone mineral density (BMD) in girls with eating disorders in the beginning of the treatment, at six months, and after one year of treatment. SUBJECTS AND METHODS: This prospective study involved 35 female adolescents with AN or EDNOS treated during one year. Lumbar (L1-L4) bone mineral density by DXA was performed in the beginning of treatment, at six months, and after one year of treatment. RESULTS: There was improvement in weight, length, BMI, bone age (p < 0.001), and 70% of the adolescents with secondary amenorrhea had their menstrual cycles restored. However, the Z-score of lumbar BMD did not show differences during one year of follow-up (p = 0.76). CONCLUSION: The recovery of BMD does not occur together with the restoration of hypothalamic-pituitary-gonadal axis.

Avaliação da densidade mineral óssea em adolescentes do sexo feminino com transtorno alimentar / Evaluation of bone mineral density in female adolescents with eating disorders

OBJETIVO: Avaliar a densidade mineral óssea (DMO) lombar em meninas com transtorno alimentar no diagnóstico e após seis meses e um ano de tratamento. SUJEITOS E MÉTODOS: Estudo prospectivo com 35 adolescentes do sexo feminino, portadoras de AN ou TANE acompanhadas por um ano. A densitometria óssea (DO) da coluna lombar L1-L4 pelo método de absorciometria com raios X de dupla energia (DXA) foi realizada no início, após seis meses e um ano de tratamento. RESULTADOS: Houve aumento do peso, da altura e do índice de massa corporal (IMC), progressão da idade óssea (p < 0,001), e 70% das adolescentes com amenorreia secundária restabeleceram os ciclos menstruais. No entanto, não houve diferença significativa do escore Z da DO lombar ao longo de um ano (p = 0,76). CONCLUSÃO: A recuperação da DMO não ocorre ao mesmo tempo em que a restauração do eixo hipotalâmico-hipofisário-gonadal.

OBJECTIVE: To evaluate lumbar bone mineral density (BMD) in girls with eating disorders in the beginning of the treatment, at six months, and after one year of treatment. SUBJECTS AND METHODS: This prospective study involved 35 female adolescents with AN or EDNOS treated during one year. Lumbar (L1-L4) bone mineral density by DXA was performed in the beginning of treatment, at six months, and after one year of treatment. RESULTS: There was improvement in weight, length, BMI, bone age (p < 0.001), and 70% of the adolescents with secondary amenorrhea had their menstrual cycles restored. However, the Z-score of lumbar BMD did not show differences during one year of follow-up (p = 0.76). CONCLUSION: The recovery of BMD does not occur together with the restoration of hypothalamic-pituitary-gonadal axis.

The prevalence of disordered eating and possible health consequences in adolescent female tennis players from Rio de Janeiro, Brazil.

The aim of this study was to estimate the prevalence of disordered eating and possible health consequences in adolescent female tennis players. This cross-sectional controlled study investigated the pubertal development (Tanner stages); body composition (dual energy X-ray absorptiometry-DXA); dietary intake (food record); presence of disordered eating (EAT-26, BITE and BSQ); menstrual status (questionnaire) and bone mineral density (DXA). The Female Athlete Triad (FAT) was divided into two severity stages. The study included 45 adolescents (24 athletes and 21 controls) at some pubertal developmental stage. The athletes exhibited better body composition profiles. We found that 91.7%, 33.3% and 25% of athletes and 71.4%, 9.5% and 33.3% of controls met criteria for disordered eating and/or low energy availability, menstrual irregularities and low bone mass, respectively. A greater percentage of athletes than controls presented with 1 and 2 FAT components (stage I), and 4.2% presented with the full syndrome. In conclusion, tennis players appear to present with more severe disorders than controls and should be monitored to avoid damage to their performance and health.

[Mayer-Rokitansky-Küster-Hauser syndrome. A report of two cases]. / Síndrome de Mayer-Rokitansky-Küster-Hauser: reporte de dos casos y revisión de la bibliografía.

The Mayer-Rokitansky-Kuster-Hauser is a rare congenital anomaly characterized by lack of vaginal and uterine development variable and normal ovaries. It results from agenesis or hypoplasia Müller duct system. Cervicovaginal agenesis as part of the complex syndrome, is even rarer. We report two cases: adolescent patient with primary amenorrhea, cervicovaginal agenesis and chronic pelvic pain, and a 28-year-old patient with primary amenorrhea, congenital absence of uterus and vagina.

Female reproduction and type 1 diabetes: from mechanisms to clinical findings.

BACKGROUND: The functional reproductive alterations seen in women with type 1 diabetes (T1D) have changed as therapy has improved. Historically, patients with T1D and insufficient metabolic control exhibited a high prevalence of amenorrhea, hypogonadism and infertility. This paper reviews the impact of diabetes on the reproductive axis of female T1D patients treated with modern insulin therapy, with special attention to the mechanisms by which diabetes disrupts hypothalamic-pituitary-ovarian function, as documented mainly by animal model studies. METHODS: A comprehensive MEDLINE search of articles published from 1966 to 2012 was performed. Animal model studies on experimental diabetes and human studies on T1D were examined and cross-referenced with terms that referred to different aspects of the gonadotropic axis, gonadotrophins and gonadal steroids. RESULTS: Recent studies have shown that women with T1D still display delayed puberty and menarche, menstrual irregularities (especially oligomenorrhoea), mild hyperandrogenism, polycystic ovarian syndrome, fewer live born children and possibly earlier menopause. Animal models have helped us to decipher the underlying basis of these conditions and have highlighted the variable contributions of defective leptin, insulin and kisspeptin signalling to the mechanisms of perturbed reproduction in T1D. CONCLUSIONS: Despite improvements in insulin therapy, T1D patients still suffer many reproductive problems that warrant specific diagnoses and therapeutic management. Similar to other states of metabolic stress, T1D represents a challenge to the correct functioning of the reproductive axis.