Outpatient analytic assessment of anorexia nervosa — the importance of venous blood gases / Avaliação laboratorial em ambulatório na anorexia nervosa: a importância da gasometria venosa

ABSTRACT Objective: To evaluate serum biochemical parameters' evolution, especially venous blood gas (VBG), in anorexia nervosa (AN), correlating with clinical parameters. Methods: Retrospective study including out-patient AN adolescents, between January 2014 and May 2017. Three evaluations were compared: t1) first consultation; t2) consultation with the lowest body mass index (BMI) z-score and t3) with the highest BMI z-score. Results: A total of 24 adolescents (87.5% females) were included, mean age of presentation of 14.9±1.7 years, onset of symptoms 6.4±3.2 months before the first visit. In t1, BMI z-score of -1.91±1.11 kg/m2 and ideal weight % of 84.3±9.2. Amenorrhea was present in 88%. In t2 the analytical alterations were: altered VBG in 100%, altered ferritin (72% elevated), altered thyroid function (53% with thyroxine decrease), dyslipidemia (31% elevation of high density lipoprotein, 25% hypercholesterolemia), elevation of urea (25%), elevation of alanine aminotransferase (14%), hypoglycemia (14%), anemia (9%). Respiratory acidosis was present in 91% in t1, 100% in t2 and 94% in t3. There was a significant decrease between t2 and t3 in mean pCO2 (57.2 versus 53.6 mmHg; p=0.009) and mean HCO3 (30.0 versus 28.8 mEq/L; p=0.023). Conclusions: Respiratory acidosis and increased ferritin were common in this group. Respiratory acidosis was the most frequent abnormality with significant pCO2 and HCO3 variation in the recovery phase. VBG should be considered in AN evaluation, once it seems to be important in assessing the severity of the disease and its subsequent follow-up.

RESUMO Objetivo: Avaliar a evolução laboratorial, particularmente da gasometria venosa, na anorexia nervosa (AN), correlacionando os achados com parâmetros clínicos. Métodos: Estudo retrospetivo com adolescentes com AN seguidos em ambulatório, entre janeiro de 2014 e maio de 2017. Foram comparadas três avaliações: (t1) primeira consulta; (t2) consulta com escore Z de índice de massa corpórea (IMC) mais baixo; e (t3) consulta com escore Z de IMC mais elevado. Resultados: Incluídos 24 adolescentes, 87,5% do sexo feminino, idade média de apresentação de 14,9±1,7 anos, início dos sintomas 6,4±3,2 meses antes da primeira consulta. Em t1, escore Z de IMC de -1,91±1,11 kg/m2 e % de peso ideal de 84,3±9,2. Tinham amenorreia 88%. Em t2 as alterações laboratoriais encontradas foram: gasometria venosa alterada em 100%, ferritina alterada (72% elevada), função tiroideia alterada (53% com diminuição da tiroxina), dislipidemia (31% com elevação de lipoproteína de alta densidade, 25% com hipercolesterolemia), elevação da ureia (25%), elevação da alanina aminotransferase (14%), hipoglicemia (14%) e anemia (9%). A acidose respiratória esteve presente em 91% em t1, 100% em t2 e 94% em t3. Verificou-se diminuição significativa entre t2 e t3 da pressão parcial de CO2 (pCO2) média (57,2 versus 53,6 mmHg; p=0,009) e HCO3 médio (30,0 versus 28,8 mEq/L; p=0,023). Conclusões: A acidose respiratória e o aumento da ferritina foram comuns nesse grupo. Acidose respiratória foi a alteração mais frequente, com variação significativa de pCO2 e HCO3 na fase de recuperação. A gasometria venosa deve ser considerada na avaliação laboratorial na AN, pois parece ser importante na avaliação da gravidade e monitorização da doença.

A case of primary amenorrhea with 46+XY genotype from Kashmir Valley.

Primary amenorrhea is one of the common reproductive disorder affecting females. It leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs. There are many causes which lead to PA, including genetic aberrations which are the leading factors.

Amenorréia primária: fluxograma de investigação / Primary amenorrhea: diagnostic flowchart

Amenorreia primária é caracterizada pela ausência de menstruação após os 14 anos sem desenvolvimento de caracteres sexuais secundários ou após os 16 anos com o desenvolvimento destes. A investigação inicia com anamnese e exame físico. Conforme a suspeita clínica, exames complementares são solicitados para realizar diagnóstico. A conduta e o tratamento baseiam-se na abordagem da etiologia.

Primary amenorrhea is characterized by the absence of menstruation after 14 years of age, when secondary sexual characteristics are not present, or after 16 years of age in the presence of these sexual characteristics. The investigation starts with the anamnesis and physical examination. According to the clinical suspicion, complementary exams are required to make the diagnosis. Management and treatment are defined in accordance with the etiology.

Etiology of primary amenorrhoea: a study of 50 cases

Amenorrhoea is one of the commonest reasons for referral of female patients to a gynaecology clinic. It is subdivided into primary and secondary. The etiology of primary amenorrhoea is complex. The aim of this study was to determine the etiological factors of primary amenorrhoea and to find out the mean age at first presentation. Descriptive Study. This Study was conducted in the department of Obstetrics and Gynaecology Foundation University Medical College Fauji Foundation Hospital Rawalpindi, from 1[st] January 2005 to 31[st] December 2007. 50 girls who reported to gynae outpatient department with the complaint of primary amenorrhoea were included in the study after informed consent. Detailed history, clinical examination and investigations [transabdominal ultrasonography, hormonal profile including serum FSH, LH and prolactin, karyotyping] were recorded in proformas for analysis. A total of 50 girls reported to gynae OPD with complaints of primary amenorrhoea over a period of 24 months with the mean age of 18.5 years at initial presentation. Almost half of the girls [48%] with normal secondary sexual characteristics had anatomical defects, rokitansky;s syndrome being the commonest, while those with absent secondary sexual characteristics had constitutional delay as the commonest cause. Mean age at first presentation is late. Anatomical causes are the commonest. Turner's syndrome is relatively uncommon in our patients

Amenorrea hipotalámica: consideraciones etiológicas y clínicas a raíz de una paciente / Hypothalamic amenorrhea: report of one case

Hypothalamic amenorrhea is secondary to the dysfunction of the hypothalamic pacemaker that regulates the pulsatile secretion of gonadotropin releasing hormone (GnRH). We report a 21 years old female with an isolated and persistent hypogonadotropic hypogonadism probably of congenital origin. The patient had a good olfactory function, did not have anatomical alterations and two GnRH stimulation tests showed a pre puberal pattern. Hormone replacement therapy allowed her to complete her puberal development.

Clinical and genetic findings of five patients with WT1-related disorders / Achados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1

AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotrophic hypogonadism; patient 2 had a gonadoblastoma. The heterozygous IVS9+4, C>T mutation, compatible with Frasier syndrome was detected. Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and mental deficiency; a heterozygous 11p deletion, compatible with WAGR syndrome was detected. Patient 5: 2 months old, same diagnosis of patient 4; he developed WT at the age of 8 months. CONCLUSIONS: Constitutional abnormalities of WT1 cause gonadal and renal anomalies and predisposition to neoplasia and must be investigated in patients with ambiguous genitalia, chronic renal disease and(or) Wilms tumors; primary amenorrhea with chronic renal disease; and aniridia, genital ambiguity and dysmorphisms.

OBJETIVO: Descrever a variabilidade fenotípica das anomalias relacionadas ao WT1. MÉTODOS: Descrição das características clínicas e genéticas de cinco pacientes 46,XY com anomalias no WT1. RESULTADOS: Paciente 1: Recém-nascido com ambigüidade genital desenvolveu tumor de Wilms (TW) e insuficiência renal crônica (IRC), com óbito aos 10 meses. Detectada a mutação 1186G>A em heterozigose, compatível com síndrome de Denys-Drash. Pacientes 2 e 3: Adolescentes com IRC, amenorréia primária e hipogonadismo hipergonadotrófico; a paciente 2 apresentava gonadoblastoma. Ambas apresentavam mutação IVS9+4, C>T em heterozigose, característica da síndrome de Frasier. Paciente 4: Idade 9 anos, aniridia, ambigüidade genital, dismorfismos e deficiência mental; deleção 11p, compatível com síndrome WAGR foi encontrada em heterozigose. Paciente 5: Dois meses, mesmo diagnóstico do paciente 4, desenvolveu TW aos 8 meses. CONCLUSÕES: Alterações constitucionais do WT1 determinam anomalias gonadais, renais e predisposição a neoplasias; devem ser pesquisadas em casos de ambigüidade genital associada a IRC e(ou) TW; de amenorréia primária com IRC; e aniridia, ambigüidade genital e dismorfismos.

Ultrasonographic findings in a group of Iranian patients with primary amenorrhea

This study was performed to report the ultrasonographic finding and final diagnosis of a group of primary amenorrhea patients. Pelvic ultrasonography [US] was employed as the first diagnostic modality to evaluate primary amenorrhea in 53 patients who were admitted to gynecology or endocrinology clinics at Taleghani hospital from 2002 to 2006. US was based upon the presence or absence of the uterus and ovaries and any other abnormal sonographic findings. Karyotype analysis was also performed for all the patients. The uterus was not visualized in 16 [30%] patients: due to mllerian agenesis in 14 and testicular feminization and true hermaphroditism in two other patients. Mllerian anomalies with hematometrocolpos or hematometra were seen in 5 [9%] patients. Thirty-two [60%] patients had a normal or hypoplastic uterus. Pelvic US showed that ovaries were in normal limits in 39 [73%] patients; they were not visible in 9 patients. The report of pelvic US was not conclusive in 3 patients; 2 had an ovarian tumor or cyst. Irrespective of the presence or absence of the uterus, all patients with visible ovaries [except one] had a normal karyotype. US of the pelvis can be the initial diagnostic modality. Based on US findings, we can make decision for further work ups; there is no need to perform all paraclinical investigations for each patient

Hysteroscopy - 3 Years experience at a Teaching Hospital

To evaluate the indications, effectiveness and safety of hysteroscopy in Gynaecological surgery. Design, A retrospective observational study from January 2003 to December 2005 at Fatima Memorial Hospital, Lahore. 76 patients who presented in the outpatient department of Gynae and Obstetrics at Fatima Memorial Hospital, Lahore with the following complaints including abnormal uterine bleeding, infertility, recurrent abortions and secondary amenorrhea were included in the study. They were pre-operatively investigated and admitted a day prior to the surgery and discharged usually within 24 hours postoperatively. The subsequent follow-up was done in outpatient department. All the data was recorded and then subsequently analyzed. 76 patients were inducted in the study. Out of these 36 [47%] had infertility 20 [26.3%] had abnormal uterine bleeding, 8 patients [10.5%] had recurrent abortions, 8 [10.5%] presented with secondary amenorrhea, 3 patients [3.9%] presented with lost IUCD and one patient [l.3%] had follow-up hysteroscopy after resection of intra- uterine septum. Hysteroscopic findings revealed intra-uterine adhesions in 8 [10.5%], submucous fibroids in 15 [19.7%], endometrial polyp in 10 [13.l%] uterine septa in 8 [10.5%], atrophic endometrium in 9 [11.8%] while there was no abnormal finding in 26 [34.2%] patients. Two patients [0.6%] sustained uterine perforations, which were diagnosed and managed during operation but no other complication occurred. Hysteroscopy is an excellent tool to perform intra-uterine adhesiolysis, polypectomy, submucous myomectomy and endometrial ablation. In addition to being a quicker, less invasive and low risk procedure, it has got the advantage of being cheap with a shorter hospital stay and diminished recovery time. Hysteroscopy, both diagnostic and operative should be an integral part of gynaecological surgery in the teaching units

Amenorréia / Amenorrhea

Amenorréia constitui manifestação de um ou mais dís- túrbios do sistema neuroendócrino reprodutor. Nesta revisão são considerados os fatores etíopatogênicos, os principais aspectos diagnósticos e terapêuticas, para auxiliar o ginecologista e outros especialistas na assistência dessas mulheres.

Del Castello syndrome--an unusual presentation.

Del Castello syndrome in a 28-year-old female, characterised by bilateral galactorrhoea, amenorrhoea and hyperinvoluted uterus, has been described. She had hyperprolactinaemia without any demonstrable pituitary tumour. She was successfully treated with two short courses of bromocriptine and was spontaneously cured after her second conception. The case is discussed with a brief review of the literature.

Síndrome de Morris: reporte de un caso / The Morris syndrome: a case report

El síndrome de Morris es la forma más común de pseudohermafroditismo masculino. Se reporta el caso de una paciente de 17 años que acude a la consulta de ginecología del Hospital Central de Maracay por amenorrea primaria. La enfermedad fue investigada mediante una atenta anamnesis y examen clínico, exámenes hormonales, ultrasonografía, cariotipo y el test de Barr. El tratamiento consistió en una gonadectomía profiláctica y terapia hormonal de embarazo

Bone mineral density in primary and secondary amenorrhea.

Amenorrhea in young women is one of the best clinical indicators for estrogen deficiency, except in the presence of gynecological structural pathology. This study aimed at investigating bone mineral density (BMD) in patients with primary and secondary amenorrhea. Thirty-six patients were enrolled in the study, seven with primary amenorrhea (mean age 24.3 +/- 4.5 yrs.) and twenty-nine with secondary amenorrhea (mean age 31.1 +/- 6.9 yrs.). Eighteen regularly menstruating women (mean age 31.8 +/- 3.7 yrs.) served as controls. BMD was measured at lumbar spine, femoral neck, Ward's triangle and trochanter. RESULTS: BMD was significantly decreased in both primary and secondary hypoestrogen amenorrheic patients. Primary amenorrheic patients were more severely affected with a BMD mean Z score below 80 per cent (osteopenia) at all sites measured. The age of primary amenorrheic women also strongly correlated with degree of demineralization. This should emphasize the importance of early diagnosis and treatment of young amenorrheic patients.

Hiperprolactinemia: a proposito de tres casos / Hyperprolactinemia: on purpose of three cases

Presentamos tres casos de hiperprolactinemia admitidos en el Hospital Obrero Nº 1 dependiente de la Caja Naciona de Salud de La Paz entre 1997 y 1999. Todas ellas mujeres con edades comprendidads entre 24 y 42 años. El cuadro clínico fue diferente en las tres, la primera preentó trastornos menstruales (ciclos irregulares), aumento de peso y sintomas relacionados con alteraciones visuales en ojo izquierdo. La segunda presento oligomenorrea, amenorrea, galactorrea y aumento de peso; la tercera galactorrea, alteraciones mesntruales e infertilidad. En todas se realizaron exámenes complementarios que incluyeron: Hematimetría, química sanguinea con pruebas de función hepatica y renal, hormonas tiroideas, FSH, LH, Prolactina, Estrógenos. Radiográfia de cráneo lateral (silla turca), TAC cerebral contrastada y en un caso Resonancia Magnetica. La causa en las tres pacientes due microadenoma hipofisario. Todas fueron sometidas a tratamiento con Bromocriptina con dosis entre 7.5 y 10 mg por dia en una sola toma. La intolerancia oral fue llamativa al inicio del tratamiento y una sola presentó congeston nasal. La adenoctomía transeptoesfenoidal (técnica de elección) fue rechazada por la paciente con alteraciones comprensivas.