Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.

The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its isolated form, it is called idiopathic. The latter may be associated with several anomalies including dermatological and urogenital abnormalities with increased risk of developing embryonal tumors. We report the case of a 22-month-old infant, who was referred by his pediatrician at the age of 15 months for a corporeal hemihypertrophy associated with hemihypertrichosis. In his medical history, a second degree parental consanguinity and a hypospadias in the father and a paternal uncle were found. Clinical examination found a weight and a size greater than chronological age (3 standard deviations), a hemihypertrophy of entire left side with a difference of length and diameter between the left and right limbs of 2 cm. The hemihypertrichosis was widespread in the left body and the genital examination found a hypospadias. Biological and radiological assessments did not show any abnormality, with the exception of an initially high plasma testosterone level, which gradually normalized. Thus, the diagnosis of idiopathic hemihypertrophy with congenital hemihypertrichosis was retained. This is the fourth case reported in the literature. Its management is similar to all hemihypertrophies, which consists of an initial assessment to detect an embryonic tumor, followed by a monitoring protocol including an abdominal and renal ultrasound every 6 months until the age of 8, determination of alpha-feto-protein every 6 to 12 weeks until the age of 4 years to track the development of the two most frequent tumors: Wilms tumor and hepatoblastoma. The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the cause of this association has not been identified to date.

Correlation between finger-prick and venous ciclosporin levels: association with gingival overgrowth and hypertrichosis.

The aims of this study were (1) to ascertain ciclosporin C(2) levels currently being achieved in children with steroid-sensitive nephrotic syndrome (SSNS) and renal transplants (RTs), (2) to determine the feasibility of the use of finger-prick samples for the measurement of ciclosporin levels, and (3) to identify any correlation between hypertrichosis or gingival overgrowth (GO) and level of ciclosporin 2 h post-dose (C(2)). Seventy-two children (39 with SSNS, 33 with RT) participated. Ciclosporin 12 h trough (C(12)) and C(2) levels were measured in venous and finger-prick samples by high-performance liquid chromatography tandem mass spectroscopy. Photographs of the teeth and back were taken for assessment of GO and hypertrichosis. Mean (+/-SD) C(2) levels in the SSNS and RT groups were 512 (+/-181) microg/l and 471 (+/-229) microg/l. There was a highly significant relationship between venous and finger-prick ciclosporin levels (r(2) = 0.96, P < 0.0001). Fourteen children had severe GO. There was a small, though statistically significant, impact of ciclosporin level on GO (C(2) r(2) = 0.12, P = 0.003 and C(12) r(2) = 0.06, P = 0.038) but no correlation with dose (milligrammes per kilogramme per day or milligrammes per square metre per day) or duration. Seventeen children had moderate or severe hypertrichosis, this being more common in children of South Asian ethnicity (P < 0.0001). There was no correlation between ciclosporin exposure or duration and hypertrichosis. Finger-prick blood sampling may serve as a practical alternative to venepuncture in children receiving ciclosporin.

Clinical assessment and serum hormonal profile in prepubertal hypertrichosis.

Twenty-two prepubertal girls with hypertrichosis were studied and compared to 10 prepubertal normal girls. Hypertrichosis was assessed according to a score that considers the amount and the distribution of vellus hair in androgen- and non-androgen-sensitive areas. Serum androgen profile and free androgen index (FAI) were determined in both groups. The hypertrichosis score was higher in patients than in the normal girls. Testosterone levels and FAI were increased in patients when compared to control; 3alpha-androstanediol glucuronide levels above 2 SD from the control mean were found in 10 girls and all hormonal parameters falling in the normal range were found in 4 girls. The new score designed to assess the degree of hypertrichosis was useful to differentiate between normal and pathological hair growth. Although most of the girls with prepubertal hypertrichosis showed an increased androgen bio-availability, a slight increase in peripheral 5alpha-reductase activity and a completely normal androgen profile was also associated with a pathological hair growth.

Investigations in the assessment and management of patients with hirsutism.

Most hirsute women have polycystic ovaries. The few women who have a more sinister cause for their hirsutism can probably be identified by clinical symptoms and signs. Therefore, the purpose of investigation is to identify those women, and this can probably be best achieved by a first-line measurement of serum testosterone. If this is normal, subsequent investigations are only required to guide the choice and use of any systemic therapy. It is probably unnecessary to measure any endocrine parameters once therapy has been initiated, since there is no relationship between these variables and hair growth.

[Cigarette smoking and hormonal changes in the course of the menstrual cycle]. / Fumo di sigaretta e modificazioni ormonali nel corso del ciclo.

ACTH, cortisol and PRL plasma levels were determined on day 7, 14, and 21 of the menstrual cycle in 20 females with hypertrichosis of whom 10 were smokers and 10 non-smokers. Significantly raised levels of all hormones considered were found in smokers throughout the cycle. These findings suggest a possible relationship between objective symptoms (hypertrichosis) and nicotine, mediated by complex changes in the endocrine pattern and presumably also due to the action of nicotine on the central nervous system.

Hormonal and clinic evaluation of patients with moderate body hair growth.

Plasma prolactin (PRL), gonadotropins (FSH, LH), estradiol-17 beta (E2), progesterone (P), total testosterone (T), sex steroid binding protein (SBP), T/SBP index, cortisol (F), 17-OH-progesterone (17OH-P), dehydroepiandrosterone sulphate (DHEA-S) and androstenedione (A), were measured in 50 fertile non-obese women presenting with moderate body hair growth and in 30 matched controls. DHEA-S and PRL were significantly higher (P < 0.002, P < 0.001, respectively) and SBP was lower (P < 0.001) in patients than in controls. Regression analyses showed that PRL levels were independent of the other parameters, while a negative correlation was found between DHEA-S and SBP values. Since the decision to treat a woman with mild body hair growth is usually a clinical one, PRL behaviour has to be taken into account before deciding the type of treatment. Clinical improvement was observed in subjects treated with ethynylestradiol plus desogestrel or plus cyproterone acetate, so as to produce an increase in SBP rather than a decrease in DHEA-S.

Bioactive and peripheral androgens in prepubertal simple hypertrichosis.

Prepubertal simple hypertrichosis is characterized by excessive growth of vellus hair in children without other signs of endocrinopathies. The aetiology is unknown and it is not clear if it is an abnormal entity or an extreme form of the normal range of hair growth. Sixteen girls (aged 7 +/- 1.9 years, mean +/- SD) with prepubertal simple hypertrichosis and, as controls, 12 normal age-matched girls were studied. All patients were in preadrenarchal age and in all patients an ACTH test was performed to exclude non-classical forms of congenital adrenal hyperplasia. Testosterone (T), androstenedione (A), dehydroepiandrosterone sulphate (DHA-S), dihydrotesterone (DHT), 3 alpha-androstanediol (3Ad) and its glucuronide (3AG), and sex hormone binding globulin (SHBG) were evaluated and free testosterone (FT) and T/SHBG ratio were calculated in all subjects. In all patients we found T, A and DHA-S plasma levels comparable to controls, excluding an increased glandular androgen secretion. No significant differences, compared to controls, were observed for SHBG, FT and T/SHBG ratio, suggesting a normal T bioavailability. DHT plasma levels were significantly increased with respect to controls (0.42 +/- 0.04 vs 0.11 +/- 0.03 nmol/l; P less than 0.002) whereas 3Ad and 3AG were comparable to controls. The very significant increase in DHT plasma levels, without a parallel increase in 3Ad and 3AG found in our cases with prepubertal simple hypertrichosis, is difficult to explain. The clinical and biochemical significance of the high DHT plasma values needs more investigation.

Pituitary enlargement, hypertrichosis and blunted growth hormone secretion in primary hypothyroidism.

Pituitary hyperplasia, hypertrichosis and blunted growth hormone (GH) secretion were observed in three children with untreated primary hypothyroidism. These abnormalities disappeared and improved after thyroid hormone therapy. The recognition of these associations may eliminate unnecessary surgery and GH therapy and lead to the choice of thyroid hormone replacement therapy.

Ciclosporin-associated hypertrichosis is not related to sex hormone levels following renal transplantation.

To study a possible relationship between ciclosporin-induced hypertrichosis and sex hormone pattern, the hair growth in different areas of the body was graded and hormone levels were assayed before and up to 6 months after kidney transplantation. Increased hair growth was observed in 100% (23/23) of the patients in skin areas connected with androgen action and in 78% of the patients in androgen-insensitive areas. After renal transplantation the pituitary, testicular and adrenal hormone levels normalized. The posttransplantation levels of these hormones would not explain the observation of increased hairgrowth. Thus, ciclosporin induces hypertrichosis via a mechanism independent of sex hormones.

[Marked endocrine abnormalities in polyneuritis with skin hyperpigmentation, hypertrichosis, edema and increased lambda type immunoglobulin A: a case report].

A syndrome which is known as plasma cell dyscrasia with polyneuropathy and various endocrine manifestations or plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, abnormal M protein and skin changes is very interesting because this syndrome has miscellaneous manifestations such as skin hyperpigmentation, hypertrichosis, polyneuropathy, M protein abnormality, plasma cell dyscrasia and endocrine disturbances. Miscellaneous endocrine abnormalities which have not been described so far are reported here. A 47 year old female was admitted with the chief complaints of edema and gait disturbance. Past and family histories were noncontributory. In April 1981, edema appeared in her face and legs. In June she noticed paresthesia in her legs. Edema increased gradually and she had difficulty walking. Her skin became pigmented and hairy. In October she was admitted because of polyneuropathy with increased cerebrospinal fluid protein without pleocytosis. Prednisolone was started. Walking improved slightly, but edema and paresthesia remained unchanged. Prednisolone was stopped at the end of the following March. In May 1982, she was admitted for further evaluation of edema and polyneuropathy. The patient was alert and cooperative. On standing the skin of her legs became cyanotic. There was hypertrichosis on the arms and legs. Her fingers were clubbed. A moderate swelling of the cervical lymph nodes was noted. There was mild hepatomegaly without splenomegaly. All tendon reflexes were lost. Plantar response was flexor. Muscular strength diminished mildly. She complained of paresthesia on the soles. Superficial sensation was normal. Vibratory sense decreased mildly. Cerebellar function and cranial nerves were normal. There was no sphincter disturbance. The examination of urine, stool and peripheral blood was normal.(ABSTRACT TRUNCATED AT 250 WORDS)

[Increased hair growth during prolonged tocolytic therapy with fenoterol. Measurements of testosterone, androstandiol, cortisol and ACTH (author's transl)]. / Verstärkter Haarwuchs unter Langzeittokolyse mit Fenoterol unter Berücksichtigung von Testosteron, Androstandiol, Cortisol und ACTH.

28 patients out of 30 treated with a longtime i.v. infusion of Fenoterol showed an intensive hair growth all-over the skin not especially showing the Linea alba and the beard. To investigate the normal hair growth during pregnancy we examined 384 volontiers just before delivery. 2,8% showed an android hair growth and 3,6% a more intensive hair growth all over the skin. To investigate the role of hormones in the excessive hair growth following i.v. tocolysis with Fenoterol, we measured Testosterone, 5 a-androstan-3 beta-17 beta-diol, Cortisol and ACTH. In contrast to the reports in literature we found a decrease in Testosterone during the treatment with Fenoterol. After an initial fall Androstandiol showed a slight rise in the 3rd week of therapy. ACTH and Cortisol remained unchanged. Contrary to the literature we did not see any augmentation of plasma Cortisol. We conclude, that androgen metabolites are not the reason for the intensive hair growth. The hair growth may be due to a more intensive metabolism within the hair follicle.

A case of leprechaunism with severe hyperinsulinemia.

This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.