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Biomedical subjects

B Lippe

Publications and source records attributed to B Lippe.

At least 19 recordsLinked to original sources
PubMed2001

Recommendations for the diagnosis and management of Turner syndrome.

Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.

Adolescent↗
PubMed1998

Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome.

OBJECTIVE: Although cardiovascular malformations (CVMs) are well-recognized congenital anomalies in Turner syndrome, aortic dilation and dissection are less common and less familiar. Most of the relevant literature is limited to single cases reports or small series. We sought to increase the information available about the frequency and characteristics of aortic dilation in patients with Turner syndrome. DESIGN: A 1-page survey of cardiac abnormalities, including aortic dilation, was mailed to approximately 1000 (1040 verified) members of the Turner Syndrome Society as an enclosure in the June 1997 newsletter. We also conducted a literature review. PARTICIPANTS: A total of 245 patients or families of patient members of the Turner Syndrome Society responded to the survey ( approximately 24% response rate). RESULTS: A CVM was reported in 120 of 232 (52%) respondents to this questionnaire. Obstructive lesions of the left side of the heart predominated and included bicuspid aortic valve (38%) and coarctation (41%). Aortic dilation was reported in at least 15 of 237 respondents (6.3%; 95% confidence interval: 3.6%-10.3%); 2 of 15 (13%) had dissection. Twelve of 15 (80%) patients had an associated risk factor for aortic dilation such as a CVM or hypertension. The 3 (20%) patients who did not have a CVM or hypertension were all younger than 21 years. In the entire group with aortic dilation, 10 of 15 (67%) patients were younger than 21 years. All patients with aortic dilation had involvement of the ascending aorta, and 2 had additional involvement of the descending aorta distal to a repaired coarctation. An update of the literature revealed 68 patients with aortic dilation, dissection, or rupture. An associated CVM or hypertension was reported in 53 of 59 (90%) informative patients. At least 6 (10%) had no predisposing risk factor (information was inadequate for 9 of 68 patients). The following patterns of aortic involvement were identified: ascending +/- descending aorta with coarctation (14); ascending +/- descending aorta without coarctation (39); descending aorta with coarctation (3); descending thoracic or abdominal aorta without coarctation (4); and unspecified (8). Dissection or rupture was reported in 42/68 (62%). Two reported patients died suddenly from aortic dissection in the third trimester of assisted pregnancy. At least 20 (29%) patients were younger than 21 years. One of the 6 (17%) patients with isolated aortic dilation was in this younger group. CONCLUSIONS: More information is needed about the frequency and natural history of aortic dilation in Turner syndrome. This work contributes new patient data and increases the literature review. Despite the well-recognized limitations of self-reporting, this survey detected aortic dilation with or without dissection in approximately 6% of patients with Turner syndrome. Although rare, this is a potentially catastrophic occurrence, warranting greater awareness among health professionals. In this study and the literature, the vast majority of patients with aortic dilation have an associated risk factor such as a CVM, typically bicuspid aortic valve or coarctation, or systemic hypertension. These patients represent a higher risk group that should be followed appropriately, usually under the direction of a cardiologist. Patients undergoing assisted pregnancy also should be evaluated closely. It is generally accepted that at the time of diagnosis of Turner syndrome, all patients should have a complete cardiology evaluation including echocardiography. The small number of patients with aortic dilation without a CVM, who would not be under the long-term care of a cardiologist, makes it prudent to screen all patients with Turner syndrome for this potentially lethal abnormality. The specific timing for this screening is controversial. Our recommendations for prospective imaging do not represent a rigid standard of care.

Adolescent↗
PubMed1996

Normal US appearance of ovaries and uterus in four patients with Turner's syndrome and 45,X karyotype.

Pelvic ultrasonographic (US) studies of four patients (ages 11-19 years) with Turner s syndrome, 45,X karyotype, and normal ovarian function were reviewed. All four had persistent menses, spontaneous breast development, and normal follicular stimulant hormone (FSH) serum concentrations. The US studies depicted normal postpubertal uterus and normal-sized ovaries with follicles. In three patients, ovaries were seen bilaterally, while in one only one gonad was identified. Radiologists should be aware that patients with Turner s syndrome, even with a single X chromosome, may occasionally have normal genital development.

Adolescent↗
PubMed1993

Formation of antisperm antibodies in women treated with fallopian tube sperm perfusion.

Fallopian tube sperm perfusion (FSP) is a combination of ovarian stimulation and intra-uterine insemination using a large volume (4 ml) of inseminate containing 10(7)-10(8) spermatozoa. The inseminate will flush the Fallopian tubes and some of it will end up in the pouch of Douglas. In the present study, we have investigated whether the FSP method will result in the formation of serum antisperm antibodies in the female. A total of 184 treatment cycles were given to 128 women. The indications for treatment were: unexplained infertility (n = 35), various infertility diagnoses (n = 28) and donor insemination (n = 65). Prior to treatment, 11 (8.6%) women had a positive tray-agglutination test (Friberg) and/or a positive immunobead test. After completing one to four treatment cycles, another six (4.7%) women had developed serum antisperm antibodies. The antibodies induced by the treatment were of isotype IgM and directed against the tail-tip of the spermatozoa. Two of the women, who prior to the treatment had antisperm antibodies, showed an increase in antibody titre during treatment. There was no statistically significant difference in the pregnancy rate between the women with antisperm antibodies and the women without. In our opinion, the small risk of developing antisperm antibodies is no contra-indication for treating infertile couples with FSP.

Adult↗
PubMed1993

Use of recombinant human growth hormone in children with chronic renal insufficiency: an update.

Growth retardation is common in children with chronic renal insufficiency (CRI). Now that dialysis and renal transplantation (TX) have become life sustaining, permanent stunted growth and adult short stature often occurs. Thus, efforts to enhance growth using recombinant human growth hormone (rhGH) have been undertaken in three groups of patients: chronic renal failure (CRF) prior to dialysis; end-stage renal disease (ESRD) on some form of dialysis; and following TX (post-TX) in whom growth retardation persists. Our initial study was in CRF. Eleven males, ages 2.5-16.3 years, with height standard deviation scores (SDS) of > 2.0 below the mean, have been treated with rhGH for 18-48 months. rhGH was started in a dose of 0.125 mg/kg three times a week in the first 8 patients and subsequently changed to daily dosing (0.053 mg/kg/day) within the first 24 months. To date, overall, growth velocity (GV) increased from 5.4 +/- 2.2 to 8.9 +/- 1.6, 7.5 +/- 1.8, 7.5 +/- 1.6 and 6.9 +/- 0.9 cm/year in those completing 12 (n = 11), 24 (n = 9), 36 (n = 7), and 48 (n = 3) months. The mean height SDS increased from > 3.0 to < 1.5 below the mean with 1 patient reaching the 50th centile. Dialysis was initiated in 2 patients, a frequency not different from that expected over time in children with this degree of CRF. In the others, calculated creatinine clearance did not change, and no significant adverse effects were noted as a consequence of the rhGH treatment. Thus, rhGH increases GV and facilitates catch-up growth in CRF.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed.

Adolescent↗
PubMed1991

Turner syndrome.

Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special emphasis on the problems of short stature and gonadal failure. Evidence is reviewed that indicates that there is a potential for increased height with growth hormone treatment. Also discussed is the spectrum of gonadal function, ranging from the onset of spontaneous puberty and the potential for fertility to complete gonadal failure.

Congenital Abnormalities↗
PubMed1990

[Freezing, thawing and transfer of human embryos].

We present our experience of cryopreservation of human embryos from 1 July 1987 to 1 July 1989. During this period, 667 in vitro fertilizing cycles were completed. In 173 (26%) of these cycles, a total of 805 surplus embryos were cryopreserved. 516 embryos were thawed and 247 of these were transferred to the uterine cavity in a total of 110 replacement cycles. This resulted in 22 (20%) pregnancies in which a total of 28 gestational sacs could be verified by ultrasound. Seven of the pregnancies aborted spontaneously in the first trimester and one pregnancy was ectopic. By 1 July 1989, five singleton pregnancies were in progress and 13 babies had been born from nine deliveries (one set of triplets and two sets of twins). 25% of the patients whose embryos were cryopreserved became pregnant in the in vitro fertilizing cycle after replacement of fresh embryos.

Adult↗
PubMed1989

Idiopathic central diabetes insipidus followed by progressive spastic cerebral ataxia. Report of four cases.

A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence. The boys have been observed for 12 to 19 years and are currently 19 to 25 years old. In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected. In patient 2, calcification that developed in the cerebellar dentate nuclei was similar to calcification described in patients with histiocytosis. In the other two patients, an etiologic diagnosis has not been established. We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia. While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.

Adult↗
PubMed1988

Oncocytic carcinoid of the kidney associated with periodic Cushing's syndrome.

An oncocytic carcinoid of the kidney producing a periodic Cushing's syndrome in an adolescent is described. The tumor displayed gross, histologic, and ultrastructural features similar to renal oncocytoma, another unusual renal neoplasm. A review of renal carcinoids and possible associations between oncocytic change and periodic hormone production are discussed.

ACTH Syndrome, Ectopic↗
PubMed1988

Treatment of Turner's syndrome with recombinant human growth hormone (somatrem).

This report extends to 3 years the prospective study of the effects of somatrem alone or in combination with oxandrolone on growth in Turner's syndrome. Sixty-seven patients completed the 1-year study period during which all treatment groups had statistically increased height velocities as compared to the control group. Oral glucose tolerance and insulin responses remained unchanged after 1 year of somatrem treatment. The group receiving oxandrolone experienced an increase in integrated glucose response and the group receiving combined therapy an increase in both integrated glucose and insulin responses. During the second and third years the somatrem group remained on the same dose and treatment schedule and grew at mean velocities of 5.4 +/- 1.1 and 4.6 +/- 1.4 cm/year. The dose of oxandrolone was reduced by 50% during the second and third years for the combination group. The somatrem dose remained unchanged. This group had height velocities of 7.4 +/- 1.4 cm and 6.1 +/- 1.5 cm/year. The control group and the group treated with oxandrolone alone were converted to combined therapy at the lowered oxandrolone dose. Their growth rates during the second year were 8.3 +/- 1.2 and 7.1 +/- 1.6 cm/year, respectively. Using bone age determinations and the methods of Bayley and Pinneau, all groups currently show predicted increases in final adult height.

Body Height↗
PubMed1988

Accelerated growth following treatment of children with chronic renal failure with recombinant human growth hormone (somatrem): a preliminary report.

Five male children with chronic renal failure (CRF) and growth retardation were treated with recombinant human GH (somatrem) three times weekly for 6 months. The patients ranged in age from 35 to 91 months and had a mean SD score for height of -3.03 +/- 1.0 at initiation of therapy. Their mean pretreatment height velocity was 4.94 +/- 1.40 cm/year for the year prior to somatrem treatment. Following 6 months of treatment all children had a significant increase in annual height velocity, with the mean annual value for the group being 10.08 +/- 1.97 cm/year (p less than 0.01). Glucose tolerance was monitored and was not significantly affected nor were there any other complications of note. These data indicate that somatrem can produce short-term accelerated height velocity in the child with growth retardation associated with CRF. The long-term benefits of therapy in this group of children is under investigation.

Body Height↗
PubMed1988

Renal malformations in patients with Turner syndrome: imaging in 141 patients.

Turner syndrome occurs in 1/2,000 to 1/5,000 live female births. The presence of renal malformations was evaluated in 141 patients with Turner syndrome and abnormalities were found in 47 (33%). Prior to 1980, IVP was the radiologic method used for initial screening, and subsequently, ultrasonography has been used as the initial imaging technique. With both methods, major malformations can be detected. Ten patients had a horseshoe kidney, 11 had double collecting systems, four had complete absence of one kidney, three had crossed ectopia, and one had a pelvic kidney. Three patients had ureteropelvic junction obstruction; two of these were asymptomatic and the obstructions were detected only because of the routine imaging. Two patients had ureterovesicular junction obstruction, with one studied as part of a routine evaluation for short stature. Four of these five patients required surgery. Ultrasonography should be used as the initial renal imaging study for all patients at the time the diagnosis of Turner syndrome is made.

Female↗
PubMed1986

Sonography of adrenal glands in neonates and children: changes in appearance with age.

The sonographic appearance of the normal adrenal gland in children varies with age. In newborns, the cortex is large and hypoechoic, whereas the medulla is relatively small and hyperechoic. With increasing age, the cortex becomes smaller and the medulla relatively larger. The cortex remains hypoechoic and the medulla hyperechoic until age 5-6 months, by which time the gland has become hyperechoic and smaller, with poor or absent sonographic differentiation between cortex and medulla. After 1 year of age, the appearance of the gland is similar to that of the adult gland, with straight or concave borders and a hypoechoic character.

Adolescent↗