青少年黄素化未破裂卵泡综合征7例

目的探讨青少年黄素化未破裂卵泡综合征(LUFS)的临床特点。方法收治LUFS患者7例;年龄12~15岁;右耻区疼痛4例,月经不调2例,痛经1例。在超声显像、病理组织学方面比较LUFS与正常卵泡、卵巢囊肿的区别。结果7例患者中,开腹手术阴性探查1例,术前复查发现卵巢囊肿自然消失3例,门诊连续观察至囊肿自然消失3例。LUFS卵泡直径增大可达5 cm以上,B超可见卵泡变大呈囊状,囊壁厚而光滑,囊内无回声中有不同程度的光点。结论LUFS患儿有特殊影像学特点和临床过程,连续观察可确诊。     

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age

Background

The timing of parturition in most mammals is thought to be linked to a late gestational rise in corticosteroid production by the fetal adrenal gland. We hypothesised that gestational age would be prolonged in our patients with impaired cortisol production secondary to congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency.

Methods

We compared the gestational age of patients affected by salt‐wasting CAH due to 21‐hydroxylase deficiency (born 1978–2004; n = 31) with that of children with congenital hypothyroidism (born 1981–2003; n = 30) and a control group of short normal children (born 1980–2002; n = 120). Each group was compared with national (England 2002–3) and regional (2003–4) data on gestational age from hospital episode statistics. Post‐term delivery was defined as birth beyond 41 completed weeks.

Results

National statistics reveal a frequency of 4.4% for singleton deliveries beyond 41 weeks. In our region the frequency was 4.6%. In the group of children with CAH, the frequency of post‐term delivery was 19.3% (p<0.001). In patients with congenital hypothyroidism, the frequency was 13.3% (p = 0.02). The proportion of short children who did not have a recognised endocrinopathy born post term was comparable to national and regional data at 6.7%.

Conclusions

A prolonged gestation is more likely in pregnancies where the fetus has the salt‐wasting form of CAH. This may be due to impaired cortisol production, although other changes in steroidogenesis may also be contributory.     

Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and altered psycho-social orientation to male. One of the reasons for interrupting replacement therapy in our case was the difficult social and economic status of the family, who lived for many years without basic medical care.     

Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and cystic dysplasia of the kidney

Congenital absence of portal vein is a rare malformation. To date, 16 cases have been reported – all in association with other anomalies, i.e. benign or malignant hepatic neoplasms in 6 cases and cardiac malformations in 12. This case report described a girl with congenital absence of portal vein, focal nodular hyperplasia of the liver and cystic kidney dysplasia. Angiography showed the splenic vein and superior mesenteric vein joining to form a common trunk that entered the inferior vena cava directly above the liver. A review of the other cases in the literature is provided and the clinical aspects of our patient are discussed. Received: 3 December 1996 / Accepted in revised form: 9 September 1997     

Cushing's syndrome due to pharmacological interaction in a cystic fibrosis patient

Treatment of allergic bronchopulmonary aspergillosis with itraconazole is becoming more widespread in chronic lung diseases. A considerable number of patients is concomitantly treated with topical or systemic glucocorticoids for anti-inflammatory effect. As azole compounds inhibit cytochrome P450 enzymes such as CYP3A isoforms, they may compromise the metabolic clearance of glucocorticoids, thereby causing serious adverse effects. A patient with cystic fibrosis is reported who developed iatrogenic Cushing's syndrome after long-term treatment with daily doses of 800 mg itraconazole and 1,600 microg budesonide. The patient experienced symptoms of striae, moon-face, increased facial hair growth, mood swings, headaches, weight gain, irregular menstruation despite oral contraceptives and increasing insulin requirement for diabetes mellitus. Endocrine investigations revealed total suppression of spontaneous and stimulated plasma cortisol and adrenocorticotropin. Discontinuation of both drugs led to an improvement in clinical symptoms and recovery of the pituitary-adrenal axis after 3 mo. CONCLUSION: This observation suggests that the metabolic clearance of buDesonide was compromised by itraconazole's inhibition of cytochrome P450 enzymes, especially the CYP3A isoforms, causing an elevation in systemic budesonide concentration. This provoked a complete suppression of the endogenous adrenal function, as well as iatrogenic Cushing's syndrome. Patients on combination therapy of itraconazole and budesonide inhalation should be monitored regularly for adrenal insufficiency. This may be the first indicator of increased systemic exogenous steroid concentration, before clinical signs of Cushing's syndrome emerge.     

Enlargement and maturation in benign cystic ovarian teratoma

This is a report of a 13½ year old girl with bilateral benign cystic ovarian teratomas (BCOT). The clinical presentation was with an abdominal mass and an abdominal X-ray film confirmed the mass which contained teeth. Previous abdominal X-ray at 3 and 10 years of age had not shown any abnormality. The clinical features and the radiological findings indicated that the BCOT had enlarged and matured during the period of follow-up.     

Abdominal dystocia in a case of undetected intrauterine meconium peritonitis due to cystic fibrosis

The case of a 36 year-old primigravida is presented. After a normal anomaly scan at 22 weeks and a normal pregnancy, she went into labor at term. Dystocia due to massive abdominal distension complicated the second stage. The newborn girl had meconium peritonitis with colonic perforation and required colonic resection with colostomy. Genetic testing detected cystic fibrosis. In this case complex meconium peritonitis developed silently (without any clinical sign) after a normal anomaly scan. This has not been reported since the start of the widespread use of obstetric ultrasound. Late meconium peritonitis can escape detection and should be thought of in cases of unexpected abdominal distension causing dystocia.     

Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data from the deceased index case or direct molecular genetic techniques were not available. The pre- and postnatal diagnosis of 21-hydroxylase deficiency was based on mass spectrometric determination of 17-hydroxyprogesterone. Dexamethasone was discontinued for 5 days prior to amniocentesis. Monitoring of cortisol, dehydroepiandrosterone-sulphate and oestriol in maternal plasma revealed suppressed maternal and fetal adrenal glands throughout pregnancy. Plasma dexamethasone levels confirmed excellent maternal compliance. At term, an eutrophic girl with normal female genitalia was delivered. The diagnosis of 21-hydroxylase deficiency and salt loss was confirmed postnatally. Regarding the side-effects of dexamethasone, the benefit/risk ratio was in favour of prenatal dexamethasone therapy.     

Idiopathic intracranial hypertension associated with polycystic ovarian syndrome

Idiopathic intracranial hypertension is defined as increased intracranial pressure of unknown origin. Idiopathic intracranial hypertension associated with polycystic ovarian syndrome (PCOS) is a rare condition in adolescence. We report the case of a 14‐year‐old girl with sudden onset of decreased visual acuity, headache and menstrual irregularity. Clinical neurological examination and magnetic resonance imaging of the brain and orbit were normal. Lumbar puncture demonstrated an increased opening pressure of 31 cmH₂O. Gynecologic investigation indicated PCOS. Her symptoms improved with medical and surgical treatment for the underlying PCOS.     

先天性肾上腺皮质增生症21羟化酶缺乏患者的生长与最终身高影响因素

先天性肾上腺皮质增生症(CAH)是一组常染色体隐性遗传病,由于肾上腺皮质激素合成酶的缺陷,皮质醇的合成部分或完全受阻使促肾上腺皮质激素(ACTH)分泌过多导致肾上腺皮质增生,同时皮质醇的前体产物过多堆积并转化为性激素.21羟化酶缺乏(21-OHD)是最常见的CAH,同时也是人类最常见的常染色体隐性遗传病之一,分为经典型和非经典型.21-OHD的治疗目标是用糖皮质激素和盐皮质激素替代,抑制ACTH的过度分泌,使肾上腺分泌的雄激素水平正常,保证正常的生长和骨骼发育,以达到或接近其遗传潜力所决定的身高.然而,由于自身疾病以及治疗的影响,CAH患儿的成年身高常较正常人群平均水平及自身遗传靶身高低下,因而成为备受关注的问题.     

Congenital cystic adenomatoid malformation associated with ipsilateral eventration of the diaphragm

A two-month-old girl was operated for a left-sided eventration of the diaphragm. At surgery, a mass representing an extralobar pulmonary sequenstration (EPS) was found inferior to the left lobe of the lung and was excised. Histopathological examination of the resected specimen showed presence of a type II congenital cystic adenomatoid malformation (CCAM) within it. A review of the relevant literature is presented.     

Hepatopulmonary syndrome associated with nodular regenerative hyperplasia after liver transplantation in a child

HPS is a significant complication of portal hypertension in children with chronic liver disease and is an established indication for LT. It is characterized clinically by the triad of pulmonary vascular dilatation causing hypoxemia in the setting of advanced liver disease. NRH, a cause of non‐cirrhotic portal hypertension, is characterized by diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Development of NRH and HPS in pediatric LT recipients has not been reported, although occasional cases have been reported in adult LT recipients. In this report, we discuss a case of a three‐yr‐old male who developed HPS, two yr after LT. Pulmonary and cardiac causes for hypoxemia were ruled out by appropriate investigations including a chest X ray, echocardiogram, cardiac catheterization, and a CT angiographic study. The diagnosis of HPS was confirmed via bubble echocardiogram that demonstrated intrapulmonary shunting. Open liver biopsy revealed marked NRH. The patient underwent liver retransplantation that resulted in complete reversal of his pulmonary symptoms and normal oxygen saturations within three months after LT.     

Cardiac liposarcoma and bilateral ovarian mature teratoma in a patient with congenital heart disease and f-anisosplenia

A 10-year-old female with atrial septal defect presented with bilateral ovarian mature cystic teratomas. Three spleniculi adjacent to the main spleen were noticed while the endoscopic surgery. Two years later a heart tumor was discovered which led to death. Pathologic examination of samples of the mass proved it to be a liposarcoma. The unusual combination of atrial septal defect, f-anisosplenia (female, congenital heart disease, multiple unevenly-sized spleens, left lung type pulmonary isomerism), bilateral ovarian mature cystic teratomas and liposarcoma of the heart appears to be a unique presentation.     

Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency

Objective: It has been shown that adiponectin serves as an insulin-sensitizing adipokine. Serum concentrations of adiponectin are low in children with obesity, and increase with fat mass loss, indicating that adiponectin can serve as a biomarker. Since the prevalence of overweight and obesity is increased in children with congenital adrenal hyperplasia (CAH), our study aimed to evaluate serum levels of adiponectin in a cohort of CAH children and adolescents, and their associations with clinical parameters such as chronological age (CA), body mass index (BMI), Tanner stage (TS), medication and metabolic control.
Patients and methods: We studied 51 patients, aged between 5.6 and 19.6 years (median 11.8; 30 females, 21 males), cross-sectionally. All patients had genetically confirmed CAH and received standard steroid substitution therapy. Adiponectin was measured by an enzyme linked immunoassay. Since BMI SDS of the CAH cohort were significantly higher compared to the reference population, we built matched pairs with healthy Caucasian subjects from a normal representative cohort for sex, Tanner stage, chronologic age and BMI.
Results: Adiponectin concentrations were significantly higher in CAH patients (median 11 μg/L) compared to the matched controls (6.7 μg/L, p < 0.0001). Correlation analyses in CAH patients revealed a significant inverse relationship between adiponectin and CA, TS, BMI, serum DHEAS and serum testosterone, but no correlation with hydrocortisone and fludrocortisone dosage.
Conclusion: Currently, the importance of the elevated adiponectin concentrations in CAH children for risk assessment is not clear. However, our data imply that besides adequate metabolic control of glucocorticoid substitution, a long-term follow-up of other metabolic markers of insulin resistance should be conducted in CAH patients.     

Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia

Malformations surveillance programs of newborn infants have been developed as a method for identifying serious and relatively common birth defects. The virilization of newborn infants with the classic 21-hydroxylase form of congenital adrenal hyperplasia must be identified early if the associated metabolic crisis in the perinatal period is to be prevented. We compared the detection of virilization associated with 21-hydroxylase congenital adrenal hyperplasia in infants by three methods: an 'active' malformations surveillance of medical records at a large urban hospital; routine medical care by examining physicians; and newborn biochemical screening of blood samples. The experience at a large maternity center in Boston, since 1972, showed that pediatricians often recognized affected females (6/6), but not males (0/2); the state newborn screening program, begun in 1990, identified correctly all affected males and females. The Active Malformations Surveillance Program was the least effective screening method, identifying four of six affected females and neither of the affected males. The low rate of detecting affected females by the Surveillance Program was attributed to a failure to sensitize the research assistants to the importance of physicians' notations regarding the signs and symptoms of virilization. The failure of examining physicians, and thereby, the malformations surveillance program, to detect virilized newborn males was due to the lack of consistent associated physical features. These comparisons between these three methods of detection can be used to design and improve malformations surveillance programs.     

Congenital adrenal hyperplasia associated with a balanced 13–18 translocation

A newborn infant was found to have saltlosing adrenal hyperplasia, ambiguous genitalia, and a balanced translocation between 13q and 18p. The simultaneous occurrence of the two defects is probably coincidental.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday     

Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis

BACKGROUND: Infants with cystic fibrosis (CF) can develop episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis when they sweat excessively, which is not caused by sweating in normal infants. We investigated the incidence of the metabolic alkalosis with hypoelectrolytemia in CF infants, the possible risk factors for its occurrence and the importance of the manifestation in the diagnosis of CF. METHODS: In order to evaluate the incidence and the risk factors for the development of this sweat-related metabolic disorder in CF, we reviewed the records of all children diagnosed as having CF before the age of 12 months in a 10-year period. Data analysis included medical history data, clinical features, biochemical parameters (blood pH, serum bicarbonate, sodium, chloride and potassium levels), sweat chloride test values, as well as genetic analysis data. RESULTS: The prevalence of metabolic alkalosis in association with low serum electrolyte concentrations (hyponatremia, hypochloremia, and hypokalemia) in infant CF population in our region was 16.5%. We found no season predilection in its occurrence. Early infant age, breast-feeding, delayed CF diagnosis, heat exhaustion and the presence of severe CF transmembrane conductance regulator mutations are predisposed factors for the development of metabolic alkalosis with hypoelectrolytemia. CONCLUSIONS: The results from our study suggest that metabolic alkalosis with hypoelectrolytemia is a relatively common manifestation of CF in infancy. The possibility of CF should be seriously considered in any infant with this metabolic disorder.