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W Hoepffner

Publications and source records attributed to W Hoepffner.

At least 19 recordsLinked to original sources
PubMed2006

Feminizing reconstructive surgery for ambiguous genitalia: the Leipzig experience.

PURPOSE: We report the results of feminizing reconstructive surgery for ambiguous genitalia with regard to the degree of virilization according to Prader and the long-term outcome with special emphasis on sexual intercourse. MATERIALS AND METHODS: Patients 16 to 46 years old with CAH (41) and MPH (17) were followed continuously by an interdisciplinary team that provided standardized hormone substitution and reconstructive surgery. More virilized genitalia were treated using a 2-stage procedure. RESULTS: Of patients with CAH no surgery and clitoris reduction were done in 4 and 2 (Prader I and II), no surgery, a 1-stage and a 2-stage procedure were done in 2, 3 and 4 (Prader III), a 2-stage procedure, a 1-stage procedure and surgery for fistula were done in 16, 4 and 2, respectively, while 1 refused surgery (Prader IV), and a 2-stage procedure was done in 5, including pull-through vaginoplasty in 2 (Prader V). Of patients with MPH no surgery was done in 6 (Prader I and II), a 1-stage procedure and a 2-stage procedure were done in 3 and 1 (Prader III), respectively, and a 2-stage procedure was done in 6, while 1 refused surgery (Prader IV). Revision vaginoplasties were necessary in 7 patients (12.1%) because of scar stenosis in those who underwent 1-stage as well as 2-stage procedures. None of our patients required reconstructive surgery to create a neovagina. Of the 58 patients 32 achieved sexual intercourse and in 17 the postoperative result would allow sexual intercourse, while in 3 the possibility of sexual intercourse is uncertain. For 3 patients sexual intercourse would not be possible since feminizing reconstructive surgery was refused. One patient could not be followed. CONCLUSIONS: Two-stage surgery leads to a favorable outcome in patients with CAH and MPH, and virilized genitalia (Prader IV and V).

Adolescent↗
PubMed2005

Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes.

To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.

Adolescent↗
PubMed2005

Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis.

We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual. Four of our patients presented with slight retardation of puberty followed by stagnation. Most importantly the development of the breast (Tanner stage 2-4) did not correspond with pubic hair stage (Tanner stage 4). The patients can be classified as virilized phenotypical females. Serum testosterone was detectable in three, estradiol in two patients. None of the gonadoblastomas showed immunoreactivity with antibodies against steroid hormone receptors and against testosterone and estradiol, respectively. Probably the immature cells are able to produce steroid hormones. Only steroid-like cells with Leydig cell appearance showed positive cytoplasmatic immunostaining for testosterone in three patients. The findings in our patients underline that dysgenetic gonads must be removed as early as possible to prevent development of malignant tumors.

Adolescent↗
PubMed2004

Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis.

Patients with dysgenetic gonads carry a high risk for the development of gonadal neoplasia. The aim of the study is to evaluate indications and feasibility of laparoscopy and video-assisted prophylactic gonadectomy in children with Ullrich Turner syndrome (UTS) or 46,XY gonadal dysgenesis (GoDy). Between 1996 and December 2002 five girls with UTS and nine patients with 46,XY GoDy (female gender role) were explored by laparoscopy. Video-assisted salpingo-oophorectomy or gonadectomy was performed using a three-port technique. Prophylactic salpingo-oophorectomy was exclusively performed in UTS patients with proven presence of translocated parts of the Y chromosome. In three patients with 46,XY GoDy laparoscopy was followed by surgical revision of the groin and open gonadectomy in four patients. In two cases with UTS the removed streak gonads contained small unilateral tumours stage pT1a, and in four cases of 46, XY GoDy histopathological investigation revealed bilateral neoplasms stage pT1b. We found the following tumour types: gonadoblastoma, dysgerminoma, testicular intraepithelial neoplasia, and mature teratoma. In conclusion, investigative laparoscopy gives a good image of the internal genital structures and allows the safe removal of the dysgenetic gonads during the same operation. The high rate of gonadal tumours underlines the indication for early gonadectomy in these patients.

Adolescent↗
PubMed2004

Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome.

The sex hormone-binding globulin (SHBG) androgen sensitivity test has been used as a simple method to assess androgen receptor function in vivo. After a short term oral administration of the anabolic-androgenic steroid stanozolol the mean nadir serum concentration of SHBG is used as a measure of androgen response. We performed this test in order to evaluate its applicability in 16 patients with intersexual genital status: eleven with 46,XY gonadal dysgenesis and three with true hermaphroditism (group I), and in two patients with androgen insensitivity syndrome (AIS, group II). Ten healthy adult volunteers served as controls. In the two patients with AIS (group II) we found a diminished decrease of serum SHBG to 80.1 % and 80.7 %, respectively, indicating slight residual androgen responsiveness. In eleven patients of group I who were not on hormone replacement therapy, a mean nadir level of 51.7 +/- 8.7 % was found. In the controls the mean nadir serum SHBG level was significantly higher (62.7 +/- 5.2 %), probably due to interference of endogenous androgens and contraceptive medication with the stanozolol-induced SHBG decrease. In three gonadectomised patients who were on hormone replacement therapy the initial SHBG concentration was increased (513.5 +/- 239.1 nmol/l); the mean nadir SHBG concentration of 45.6 +/- 9.8 % of the initial level indicates an increased sensitivity of the test in patients in whom the counteracting ovarian androgens are absent. Our findings confirm that under standard test conditions the SHBG androgen sensitivity test is a simple diagnostic tool for the detection of androgen receptor malfunction.

Adolescent↗
PubMed2004

Priming with testosterone enhances stimulated growth hormone secretion in boys with delayed puberty.

BACKGROUND AND OBJECTIVE: Tests for growth hormone (GH) deficiency are not always helpful in the differential diagnosis of physiological delay of growth and puberty and GH deficiency. PATIENTS AND METHODS: To enhance diagnostic specificity, we used a single dose testosterone priming before repeating the arginine stimulation test in 26 boys with short stature and only early signs of puberty who failed to show an adequate response of serum GH in the first test. RESULTS: 77% (20/26 patients) increased their serum GH peak to more than 10 ng/ml, whereas six patients were still below this concentration. CONCLUSION: We propose that testosterone priming is a useful tool to distinguish between physiological delay of growth and puberty and GH deficiency and should be included in the diagnostic procedure.

Adolescent↗
PubMed2002

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications.

OBJECTIVE: In girls with congenital adrenal hyperplasia (CAH), genital ambiguity usually leads to a rapid neonatal diagnosis. Rarely, CAH causes complete virilization and male sex assignment with a delayed diagnosis. After being confronted with very specific problems in two of such patients, we collected data of patients with CAH and complete virilization in a nationwide study to delineate specific problems of these rare patients in order to improve their management. DESIGN AND PATIENTS: Through the German Working Group of Paediatric Endocrinology (Arbeitsgemeinschaft Pädiatrische Endokrinologie, APE), questionnaires were sent to all members caring for patients with CAH and complete virilization in their endocrine clinics. Data from 16 patients from 10 paediatric endocrine centres were assessed by questionnaire. RESULTS: The following problems have been encountered. (1) Sex assignment/gender identity: initially all patients had a male sex assignment. Six patients were diagnosed during the first month of life. Five were reassigned to female sex immediately, one at the age of 19 months. Except in one girl demonstrating some tomboyish behaviour, gender role behaviour in these patients did not differ from unaffected girls. Ten patients were diagnosed late at 3.4--7 years of age. In seven patients with a late diagnosis, male sex assignment was maintained; one of them expressed some concerns about living as a male. In three patients late sex reversal was performed, gender identity is very poor in one and new sex assignment is currently under consideration. (2) SURGERY: irrespective of the sex assigned, all patients had between one and three surgical procedures, including clitoris reduction and (repeated) vaginoplasties in patients with female sex assignment. Hysterectomy and ovarectomy were performed in patients with male sex assignment. (3) Short stature: patients with a late diagnosis of CAH had extremely advanced bone ages of +6.3 to +9.5 years, leading to severely reduced final height of 137 to 150 cm in adult patients. Patients tended to follow height percentiles of genetic females. One pubertal patient was suicidal due to short stature. (4) Central precocious puberty (CPP): prolonged exposition to adrenal androgens led to CPP in one patient. He was treated with GnRH analogues until gonadectomy. CONCLUSIONS: Patients with CAH and complete virilization have a high risk of being diagnosed late. There are major problems and uncertainties of the patients' families and the treating physicians concerning gender assignment. Gender identity is disturbed in some patients. In addition, multiple surgical procedures are necessary and short stature as well as central precocious puberty might be important to avoid late sequelae. While some surgical interventions are probably unavoidable, most of these issues could be resolved with an early diagnosis. Thus, especially for these patients, a neonatal screening programme for CAH would be of paramount importance.

Adolescent↗
PubMed2001

The DSL analog free testosterone assay: serum levels are not related to sex hormone-binding globulin in normative data throughout childhood and adolescence.

In this study we tested the performance of easy-to-use and rapid, commercially available immunoassays to measure free testosterone (fT) and sex hormone-binding globulin (SHBG). We asked whether fT and SHBG serum levels are age-dependent and whether or not there is a gender dependence of fT and SHBG in this age group. Finally, by measuring fT and SHBG in sera of a cohort of healthy children and adolescents using commercially available immunoassays, we established normative data for fT and SHBG in this age group: in boys fT levels increased significantly (r=0.83, p<0.0001) from 0.63 pmol/l (median) in the age group below 5 years to 56.9 pmol/l in the age group 16-20 years. In girls fT levels also increased with age (r=0.66, p<0.0001): from 0.72 pmol/l (median) in the age group below 5 years to 3.34 pmol/l in the age group 16-20 years. In contrast, SHBG serum concentrations significantly decreased with age in boys (r=-0.62, p<0.0001) but remained constant in girls (r=0.04, n.s.). Importantly, fT values were independent of SHBG levels as determined by our methods. In conclusion, fT can be measured in an acceptable quality using the DSL analog tracer-based immunoassay and normative data are now available. In addition, SHBG levels in healthy children and adolescents are also given and may permit for studies of pathophysiologic states in this age group.

Adolescent↗
PubMed2000

Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.

Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. Major complaints are irregular menstruation, hirsutism, acne, obesity, deep voice, and cushingoid features. Surprisingly, a higher prevalence of psychosomatic disorders has not yet been described. Since anorexia nervosa (AN) has not yet been described in patients with CAH, we here report 4 cases of female CAH patients who developed AN during adolescence. Diagnosis of CAH was made between the age of 10 days and 3 years. Three patients suffer from the simple-virilizing form of CAH, one patient has a mild salt wasting CAH. Genital malformation varied from Prader stage II to IV. All 4 patients were compound heterozygotes for mutations/deletions of the CYP21B gene. Control of substitution therapy consisting of hydrocortisone and fluorocortisone was good. AN developed at ages 12, 13, 17, and 21 years (ICD 10 criteria for AN are BMI below 17.5 kg/m2, deliberate weight loss, body image disturbance, and primary or secondary amenorrhoea). Diagnosis of AN was established by psychiatrists and/or psychologists. All four patients showed an impressive and deliberate weight loss between 13 and 20 kg within 6 months, had primary or secondary amenorrhoea, and presented with BMI between 13 and 17.9 kg/m2. All patients received psychological treatment and recovered. However, one patient had a severe relapse of AN. Two patients are now married and one has a healthy son. These cases demonstrate that the diagnosis of CAH is compatible with the development of AN and illustrate the importance of providing treatment for CAH patients that encompasses not only medical but also psychological and social care.

Adrenal Hyperplasia, Congenital↗
PubMed1999

Laparoscopic bilateral adrenalectomy in a child.

Laparoscopic adrenalectomy is an established technique--in adults. This report describes a bilateral laparoscopic adrenalectomy in a child. As in adults, it indicates that the technique is superior in anatomic exposure and postoperative recovery, and is well suited for children.

Adolescent↗
PubMed1999

Reversion of the differentiated phenotype and maturation block in Sertoli cells in pathological human testis.

To study the relationship between abnormal Sertoli cell differentiation and spermatogenic impairment, we examined the expression of Sertoli cell markers normally lost at puberty, cytokeratin 18 (CK18), anti-Müllerian hormone (AMH) and M2A antigen, in three children (aged 1-2 years), 50 adults (aged 19-45 years) with obstructive or non-obstructive azoospermia or oligozoospermia, and six patients (aged 1-18 years) with 5 alpha-reductase deficiency. There was CK18 and/or AMH expression, but never M2A antigen expression, associated with spermatogonial arrest or Sertoli cell-only (SCO) syndrome in infertile men. Loss of M2A antigen suggests the transition of Sertoli cells to an adult phenotype, while CK18 and/or AMH expression may be a manifestation of de-differentiation of Sertoli cells. In 5 alpha-reductase deficiency, there was a sequential loss of CK18, M2A antigen and AMH around puberty, associated with partial spermatogenesis. The persistence of immature Sertoli cells expressing M2A antigen was associated with prepubertal seminiferous cords and SCO syndrome. Therefore, 5 alpha-reductase deficiency may prevent the maturation of Sertoli cells, resulting in impairment of spermatogenesis, and loss of M2A antigen expression coincides with a critical step in the Sertoli cell maturation. High follicle stimulating hormone concentrations due to failure of normal Sertoli cell differentiation indicate a normal development pattern of the hypothalamic-pituitary-gonadal axis.

Adolescent↗
PubMed1996

Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.

Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5 alpha-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia. Mutations of the SRD5A2 gene inhibit enzyme activity, diminish DHT formation, and hence cause masculinization defects of varying degree. The classical syndrome, formerly described as pseudovaginal perineoscrotal hypospadias, is characterized by a predominantly female phenotype at birth and significant virilization without gynecomastia at puberty. We investigated nine patients with steroid 5 alpha-reductase 2 deficiency (SRD). Phenotypes, which were classified according to the severity of the masculinization defect, varied between completely female (SRD type 5), predominantly female (SRD type 4), ambiguous (SRD type 3), predominantly male with micropenis and hypospadias (SRD type 2), and completely male without overt signs of undermasculinization (SRD type 1). T/DHT-ratios were highly increased ( > 50) in the classical syndrome (SRD type 5), but variable in the less severe affected patients (SRD types 1-4) (14-35). Mutations in the SRD5A2 gene had been characterized using PCR-SSCP analysis and direct DNA sequencing. A small deletion was encountered in two patients, while all other patients had single base mutations which result in amino acid substitutions. We conclude that phenotypes may vary widely in patients with SRD5A2 gene mutations spanning the whole range from completely female to normal male without distinctive clinical signs of the disease. Hence, steroid 5 alpha-reductase deficiency should be considered not only in sex reversed patients with female or ambiguous phenotypes, but also in those with mild symptoms of undermasculinization as encountered in patients with hypospadias and/or micropenis. A classification based on the severity of the masculinization defect may be used for correlation of phenotypes with enzyme activities and genotypes, and for comparisons of phenotypes between different patients as the basis for clinical decisions to be made in patients with pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1995

[Studies on sexual development, sexual behavior and ability to experience sex of young women with Ullrich-Turner syndrome].

In this investigation 25 female patients were included with the Turner syndrome (TS). From the 25 patients 6 had spontaneous menstruations, 19 had menstruations only after a hormonal stimulation. In a semi-structured interview the patients were questioned about their sexual activities, behavior and orgastic capacity. The findings were related to a matched normal female population. Moreover an analysis of personality traits by means of the Freiburger Persönlichkeitsinventar [FPI], the Giessen Test [GT], and a questionnaire on education styles of parents [EMBU] has been undertaken. The endocrine profile of the patients with induced menarche showed an elevated value of LH and FSH in serum, and a low level of estradiol. The sexual development of all patients was normal during the prepubertal phase. However the biological puberty was delayed by three years in the study patients, in relation to a normal population. Each of these women had a normal female identity and was heterosexual oriented. In concordance with the literature, patients who were substituted too late, showed defined deficits in their psychic well being, as well as in their social and psychosexual functioning. These deficits only were significant in relation to delayed menarche, but not to chronological age, gynecological age, karyotype, body height or parental education style. Therefore, an early and adequately dosed hormonal intervention and a consequently and regularly performed substitution therapy with sexual steroids has to be undertaken beside the well known intervention with growth hormone.

Adolescent↗
PubMed1991

[Care of patients with celiac disease in adolescence and young adulthood].

60 patients suffering from coeliac disease were continuously cared for during a longer period. In these patients the diagnosis was established on the basis of the commonly used ESPGAN criteria in their childhood. Another biopsy was performed in adolescence and early adulthood. In 26 patients the diagnosis coeliac disease was confirmed. These patients are recommended to carry on keeping to a strict diet. 4 patients show a normal mucosa (type I) while following normal nutrition for more than 2 up to 5 years in adulthood although in their childhood the diagnosis of coeliac disease was established. While being put an a diet or following a short lasting normal nutrition, respectively, 17 patients have a morphologically intact mucosa of the small intestine, which is, however, in nearly all cases functionally damaged. In these patients the diagnosis is to be clarified definitely by means of a final biopsy of the small intestine after an at least 2-year-lasting exposition to gluten. 13 patients refused a biopsy in adulthood.

Adolescent↗
PubMed1990

[The determination of bone age by the Greulich-Pyle and Tanner-Whitehouse methods as a basis for the growth prognosis of tall-stature girls].

Different height predictions of 48 untreated girls with constitutionally tall stature (bone age 10.0-14.0 years) were compared with the final height. The following conclusions were drawn: The height prediction according to Bayley-Pinneau provided the best results. However, by this method the final height of the younger girls is markedly underestimated while that of the older one's is slightly overestimated. Mathematical methods for correction of these errors and for estimation of the growth rates are given in the text.

Adolescent↗