Alopecia universalis in autoimmune polyglandular syndrome type I.
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Alopecia↗
Biomedical subjects
R Kauli
Publications and source records attributed to R Kauli.
Delayed puberty and hypoplastic uterus associated with hyperprolactinemia: successful treatment with bromocriptine.
A 15-year-old girl referred because of primary amenorrhea was found to have a hypoplastic uterus and persistent hyperprolactinemia (72-110 ng/ml). The gonadotrophin-dependent pubertal signs, i.e. breast and vulvar development, were significantly retarded (Tanner stage 2-3) while sexual hair was well developed; bone age was 13 years. The endocrinological evaluation revealed gonadotrophin secretion (LH-basal: 0.85-1.25; peak after LH-RH: 10.4 mIU/ml; FSH-basal: 1.63-2.5; peak: 8.2 mIU/ml) and E2 levels (26-68 pg/ml) which were appropriate for Tanner stage 3. The high basal levels of PRL were nonresponsive to either stimulatory (TRH) or inhibitory (nomifensine) agents. CT scan of the brain suggested the presence of a pituitary microadenoma. Following therapy with bromocriptine (2.5 mg/day) plasma PRL levels dropped to normal (5-6.8 ng/ml) with an accompanying catch-up of pubertal development and linear growth and a marked increase in size of the uterus as documented by repeated ultrasonographic examinations. Menarche occurred 5 months after initiation of therapy, followed by regular menses thereafter. Repeated CT scan of the brain showed a decrease in the density and size of the still persisting lesion. This patient demonstrates that hyperprolactinemia can cause delayed puberty with a particular inhibitory effect on uterine growth and development.
Adenoma↗
Hepatitis associated with propylthiouracil treatment.
A 12-year-old girl with hyperthyroidism who had started treatment with propylthiouracil (PTU) 100 mg tid developed hepatitis. The drug was stopped, and the clinical and laboratory findings of hepatitis disappeared within a week. She was not receiving other drugs that could cause hepatic damage, and investigations for various viral agents were negative. This is the ninth report of PTU-induced hepatitis. The clinical picture is similar to that of viral hepatitis. Recovery usually occurs after withdrawal of the drug, but there have been two fatal cases of PTU-induced hepatitis.
Chemical and Drug Induced Liver Injury↗
Treatment of precocious puberty with LHRH analogue in combination with cyproterone acetate-further experience.
Six girls and one boy with precocious puberty were treated with a superactive LHRH analogue (D-TRP6-LHRH) for periods ranging from 1 year to 2 years and 3 months. In the first phase of the treatment it was administered in combination with cyproterone acetate (CyA) to counteract an early stimulatory effect until inhibition of gonadotrophin secretion was achieved. The gonadotrophin-dependent signs i.e. gonadarche, showed sustained arrest and even regression. Gonadal sex steroids decreased but the adrenal androgens were unaffected. In four patients who showed progression of the angrogen-dependent signs (adrenarche), despite suppression of gonadotrophins, increasing the dosage of the LHRH analogue was ineffective and combined therapy with CyA was reinstituted in three of them because of accelerated growth and bone maturation. It is concluded that at present the treatment of choice for precocious puberty is the daily administration of a superactive LHRH analogue such as D-TRP6-LHRH, together with CyA in the initial stage, and at a later state if adrenarche progresses too rapidly.
Androgens↗
Premature thelarche--natural history and sex hormone secretion in 68 girls.
Data obtained during long-term follow-up of 68 girls with premature thelarche were analysed. In 85% onset was before the age of 2 years, in 30.8% being present at birth. In 44.1% there was a regression after 3 2/12 +/- 2 8/12 years (SD). Basal levels of plasma FSH and response to LH-RH were significantly higher than prepubertal controls (1.93 +/- 1.56 vs. 0.8 +/- 0.1 mU/ml and peaks 12.3 +/- 5.4 vs. 7.9 +/- 1.0 mU/ml respectively; p less than 0.001). Twenty-seven of 52 patients tested had increased plasma estradiol and in 27 of 40 patients tested, urocytograms or vaginal smear showed estrogenization. Basal levels of LH and response to LH-RH were prepubertal. The girls with premature thelarche were significantly taller than normal controls of the same age (p less than 0.001). These results suggest that premature thelarche is an incomplete form of precocious sexual development probably due to derangement in the maturation of the hypothalamo-pituitary-gonadal axis which results in a higher than normal secretion of FSH, as well as a defect in the peripheral sensitivity to the sex hormones.
17-Ketosteroids↗
Intellectual function of girls with precocious puberty.
The IQ of 52 girls with precocious puberty (mean age 9.5 +/- 2.8 years) was compared with that of 51 normal matched control subjects (mean age 9.7 +/- 2.8 years) and with that of eight girls with fast puberty (onset at normal age but accelerated advancement). Girls with precocious puberty had a significantly higher verbal IQ score than the control subjects but no difference was found in the performance score. The distribution of the verbal IQ score in the girls with precocious puberty was skewed toward the upper side of the theoretical distribution curve. The distribution was two or more times the expected theoretical percentile in the above average area (greater than 110, 56.9% v 25%), and five times more in the very superior area (greater than 130, 10.1% v 2.2%). The girls with fast puberty had the same behavior as the population with normal development. The results are interpreted as possible evidence of an effect of sex hormones on brain development, especially on the left hemisphere, during the prepubertal period.
Adolescent↗
[Congenital hypothyroidism due to athyreosis].
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Child↗
Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome.
A 7-year-old boy with Prader-Labhart-Willi syndrome who had precocious adrenarche was found to have primary gonadal failure, as evidenced by appropriate laboratory investigations: elevated basal levels of plasma FSH and LH with exaggerated responses to LH-RH stimulation and unresponsiveness of plasma testosterone to repeated hCG stimulations. The elevated values of plasma DHEA which were found indicate an early activation of the adrenal gland. This patient demonstrates the variability of pubertal development in the Prader-Labhart-Willi syndrome, with the unusual association of primary gonadal failure and precocious adrenarche.
Adrenal Cortex↗
A comparative study of the effect of oestrogen substitution therapy on breast development in girls with hypo- and hypergonadotrophic hypogonadism.
During treatment of girls with oestrogen deficiency we observed different patterns of breast development in response to therapy. The forty-five girls studied fell into four groups: Group A, gonadal dysgenesis; Group B, isolated gonadotrophin deficiency; Group C, multiple pituitary hormone deficiencies; Group D, congenital adrenal hyperplasia (17-alpha-hydroxylase deficiency). Treatment with oestrogen was given in an identical manner to all. In the patients with gonadal dysgenesis, in whom the hypothalamic-pituitary function was normal, treatment led to full breast development. In isolated gonadotrophin deficiency and multiple pituitary hormone deficiency breast development was incomplete even after 3 years or more of oestrogen treatment. The conspicuous difference in the hormonal status is that the latter two groups lack gonadotrophins, while in gonadal dysgenesis these hormones are grossly elevated. Our conclusion is that gonadotrophins play an important role in mammary gland development, a finding not previously described. In the girl with 17-alpha-hydroxylase deficiency we observed that cortisol was necessary, in addition to sex hormones, for normal breast development.
Adolescent↗
Adrenocortical function in children with precocious sexual development during treatment with cyproterone acetate.
Adrenal function was studied in thirty-two children with precocious sexual development who were being treated with cyproterone acetate (CPA) at doses ranging from 68 to 175 mg. m2. day for periods lasting from 2 to 79 months. In eighteen children the adrenocortical function evaluation was made before and during CPA treatment. In these eighteen patients, the mean basal plasma cortisol level during the morning hours was 11.2 +/- 4.6 micrograms/dl (m +/- SD) before treatment and fell significantly to 7.2 +/- 4.1 micrograms/dl (P less than 0.02) during therapy. In fifteen patients tested during insulin hypoglycaemia the cortisol peak fell from 21.6 +/- 5.5 micrograms/dl before treatment to 16.7 +/- 6.8 micrograms/dl (P less than 0.05) during CPA therapy. There was a significant inverse correlation between this peak and the dose of CPA but no correlation was found between the cortisol response and duration of treatment. In eight of twenty patients tested, urinary free cortisol levels were undetectable during treatment. No change in basal plasma ACTH levels were demonstrated using standard radioimmunoassay techniques. In the patient receiving the highest dose of CPA and showing complete suppression of the adrenal axis, prolonged stimulation with ACTH-Depot demonstrated a responsive adrenal gland. Addition of a replacement dose of cortisol to the CPA treatment led to the rapid development of the typical signs of Cushing's syndrome. It was concluded that despite the evidence of adrenal suppression by CPA, cortisol supplementation is not necessary and may not even be contraindicated.
Adrenal Cortex↗
Effect of anorexia nervosa on gonadotrophin secretion in a patient with gonadal dysgenesis.
The 11th documented concurrence of anorexia nervosa (AN) and XO-gonadal dysgenesis (GD) is reported. This is the first endocrine study of such a disease combination. The patient, a 15-year-old girl, has been followed since early childhood and comprehensive endocrinological investigation were performed before, during and after the episode of AN. The dynamic changes in the thyroid and pituitary hormones were in concordance with those already observed by us as well as by others in patients with AN. The most remarkable observations concerned the gonadotrophin secretion: during the anorectic episode basal levels and peak responses to LRH and both LH and FSH were seen to decrease from the hypergonadotrophic range to the normal prepubertal range whereas after recovery from AN and regain of weight these rose back to castration levels. AN would seem to be the only condition yet known able to abolish temporarily the hypergonadotrophic state of GD, a fact favouring the hypothesis that AN is associated with a reversible hypothalamic dysfunction. It is assumed that this disturbance is due to nutritional as well as to psychological factors. The significance of the coexistence of AN and GD is discussed and it is suggested that psychological factors in GD may be implicated in this association.
Adolescent↗
[Sexual development in the Prader-Labhart-Willi syndrome].
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Adolescent↗
D-TRP5-analogue of luteinising hormone releasing hormone in combination with cyproterone acetate to treat precocious puberty.
A 6-year-old girl with central (true) precocious puberty was successfully treated with a combination of the luteinising hormone releasing hormone analogue (D-Trp6)-LH-RH and cyproterone acetate. This treatment led to an almost complete arrest of gonadotrophin and oestrogen secretion, induced regression of pubertal signs, and markedly slowed bone maturation. It is suggested that the paradoxical refractoriness of the gonadotrophic and gonadal cells induced by long-term treatment with LH-RH agonists can be exploited in the treatment of precocious puberty.
Bone Development↗
End-organ resistance to 1,25-dihydroxycholecalciferol.
A 13-year-old girl with total alopecia who in infancy had rickets unresponsive to large doses of vitamin D2 is described. She had profound hypocalcaemia which was resistant to treatment with high doses of dihydrotachysterol, 1 alpha-hydroxycholecalciferol, and 1,25-dihydroxycholecalciferol. Serum concentrations of 25-hydroxyvitamin D were normal but those of 1,25-dihydroxycholecalciferol were markedly raised (674 and 745 pg/ml). In addition, 24,25-dihydroxyvitamin D was undetectable in serum. Administration of synthetic 24,25-dihydroxycholecalciferol was followed by normocalcaemia which persisted long after treatment was stopped. Her sister, who died at the age of 10 months, also had had total alopecia, rickets, and hypocalcaemia resistant to vitamin-D2 therapy. In this familial syndrome there seems to be end-organ resistance to the action of 1,25-dihydroxycholecalciferol, possibly as a result of changes at the receptor sites.
Adolescent↗
[Comparison between growth hormone secretion during sleep and provocative tests in children and adolescents].
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Adolescent↗
Prolactin deficiency, obesity, and enlarged testes--a new syndrome?
A 4-year-old boy is described who was obese and slightly mentally retarded. His testes were enlarged. The only endocrine disorder present was a failure to increase plasma prolactin after stimulation.
Child, Preschool↗
Pubertal development in girls with sexual precocity after discontinuation of treatment with cyproterone acetate.
Twenty-four girls with sexual precocity who had been treated with cyproterone acetate were followed for periods from 1 to 8 1/2 years after the discontinuation of therapy. It was found that their further pubertal development and the resumption or appearance of menstruation followed a natural course within the wide limits of physiological variability. It is concluded that puberty resumes its natural course following cessation of treatment with cyproterone acetate, and it is assumed that the reproductive ability of these patients will not be affected.
Adolescent↗
Effect of human growth hormone therapy on head circumference in children with hypopituitarism.
Head circumference was measured before and during hGH therapy in fourteen children with isolated growth hormone deficiency (IGHD) and in twenty-one children with multiple pituitary hormone deficiencies (MPHD). In both groups there was a retardation in growth of the neurocranium, more marked in the children with IGHD, which was less than the retardation in linear height. In the group with IGHD, initiation of hGH therapy before a chronological age of 5 and a bone age of 3 had been reached led to a rapid catch-up in cranial growth with normalization of the head size. In older children the induction of head growth was similar to that achieved by the long bones but without a true catch-up phenomenon. In three adults with hereditary IGHD without therapy or with irregular treatment during late puberty, the head circumference was below normal range. In view of the possible role played by development of brain tissue upon cranial size, the importance of early diagnosis and initiation of therapy in infants and young children with a deficiency of hGH is stressed.
Adolescent↗