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PubMed1993

Genetic susceptibility for C19 androgen induction of ovarian granulosa cell tumorigenesis in SWXJ strains of mice.

Susceptibility to pubertal onset, malignant granulosa cell (GC) tumors of the ovary is inherited in SWR/Bm and certain SWR-related SWXJ recombinant inbred strains of mice. In some SWXJ strains, GC tumors occur spontaneously (spontaneous strains), and in others GC tumors can only be induced by treatment with dehydroepiandrosterone (DHEA-dependent strains). A gene controlling susceptibility to both spontaneous and DHEA-induced GC tumorigenesis, Gct, has been assigned to Chromosome 4. Additional research on the role of steroids in GC tumorigenesis has revealed a second gene controlling response to C19 androgenic steroids. Spontaneous strains showed increased tumor frequency after treatment with testosterone (T), whereas DHEA-dependent strains showed no GC tumors following T treatment. Within treatment groups, serum steroid data from DHEA, T, and control treated mice showed no consistent differences between spontaneous and DHEA-dependent strains with respect to progesterone, DHEA, androstenedione, dihydrotestosterone, T, estrone, or estradiol. Thus, observed differences in GC tumor responsiveness to exogenous steroids were not due to different patterns of steroid metabolism among spontaneous and DHEA-dependent strains. Further studies on the range of effective C19 steroids were conducted using one spontaneous and one DHEA-dependent strain. The spontaneous strain showed increased GC tumor frequency in response to dihydrotestosterone and androsterone treatment, whereas the DHEA-dependent strain showed no response. This result suggests that spontaneous strains may be sensitive to a broad range of C19 steroids. To determine whether genetic differences in endogenous steroid levels have a role in spontaneous GC tumorigenesis, serum steroid levels were measured in SWR/Bm and SJL/Bm progenitor strains during the developmental period of risk between 22 and 38 days of age. With the exception of transiently increased DHEA at 22 days, there were no consistent differences in steroid levels analyzed. Thus, serum steroid profiles were not reliably prognostic for GC tumorigenesis. In conclusion, GC tumor induction in response to T treatment has co-segregated with susceptibility to spontaneous GC tumors in the SWXJ recombinant inbred strains. Thus, the second gene in our ovarian granulosa cell tumor model regulates responsiveness to T. We propose to name this gene spontaneous ovarian tumorigenesis (Sot), with alleles for susceptibility (s) carried by spontaneous strains and resistance (r) carried by DHEA-dependent strains.

Adrenal Glands↗

PubMed2003

Inhibition of progesterone secretion by oestradiol administered in the luteal phase of assisted conception cycles.

A prospective randomised study was done to assess the effect of supplemental oestradiol in addition to progesterone on the luteal steroid profiles and pregnancy outcome in stimulated cycles with and without pituitary down regulation. Women undergoing stimulated cycle IVF with GnRH-a and FSH (Group A, n = 63) or stimulated intrauterine insemination using CC and FSH (Group B, n = 55) were studied. These subjects were randomly allocated to receive either 400 mg daily of vaginally administrated Cyclogest (progesterone) alone or in combination with 2 mg daily of oral Oestradiol Valerate (E2V) during the luteal phase. Significant lower concentrations of plasma progesterone were observed in those subjects supplemented with both E2V and progesterone compared to those in whom progesterone only was given during the luteal phase (P < 0.05). Exogenous E2V had a minimal impact on plasma oestradiol concentrations and did not disguise the characterised mid luteal decline in oestradiol secretion. The suppressive effect of E2V on plasma progesterone was lost if implantation occurred normally because any small change in steroid concentrations was reversed by the rapidly increasing concentrations of HCG. Similar pregnancy rates were observed among subjects supplemented with or without oestradiol. The addition of oestradiol to the luteal supplement suppresses endogenous corpus luteum progesterone secretion irrespective of the type of assisted conception cycle and that its use is unlikely to be beneficial to the process of implantation.

Adult↗

PubMed2004

Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products.

OBJECTIVE: To clarify the pathogenesis of transient hyper-17alpha-hydroxyprogesteronemia, we initiated a laboratory investigation in a pre-term infant with persistently high serum 17alpha-hydroxyprogesterone (17-OHP) until 2 months of age. METHODS: Serum 17-OHP level was measured by high-performance liquid chromatography and radioimmunoassay, and gene analysis of CYP21A2 (21-hydroxylase) was performed. RESULT: Serum 17-OHP level on the 29th day of life was 25.4 ng/ml, and the urinary steroid profile showed low pregnanetriolone. Gene analysis of 21-hydroxylase disclosed no mutation, and 17-OHP normalized by 3 months of age without specific treatment. CONCLUSION: Transient elevations in 17-OHP, which do not appear related to cross-reactions with products of a residual fetal adrenal cortex, may occur in the first few months of life.

17-alpha-Hydroxyprogesterone↗

PubMed1994

Dynamics of 24-hour pulsatile cortisol, 17-hydroxyprogesterone, and androstenedione release in prepubertal patients with nonclassic 21-hydroxylase deficiency and normal prepubertal children.

To assess whether the quantitative and qualitative aspects of cortisol, 17-hydroxyprogesterone (17-OHP), and androstenedione (D4A) secretion in patients with nonclassic congenital adrenal hyperplasia (NCCAH) differ from those in normal children, 24-hour serum concentrations of these steroids were measured in five prepubertal patients with NCCAH and five normal prepubertal children. Adrenal steroid profiles obtained by 30-minute sampling were analyzed by the Pulsar program. In comparison to normal children, the 24-hour quantitative parameters of 17-OHP and D4A secretion were significantly greater in NCCAH patients, but serum cortisol concentrations were similar in the two groups. When daytime and nighttime hormone releases were separately analyzed, a significant nocturnal elevation of the cortisol area under the curve above zero level (AUCo) and 12-hour mean and 17-OHP AUCo, AUC above baseline, mean peak height, amplitude, area, and 12-hour mean was detected in normal subjects only. Conversely, NCCAH patients exhibited an increased frequency and number of 17-OHP secretory peaks at night together with a reduction of the interpeak interval. No significant day/night differences in D4A concentrations were detected either in normals or in the patients. In conclusion, the results of the present study indicate that patients with NCCAH have a distinct pattern of adrenal steroid secretion characterized by a high-frequency 17-OHP release accompanied by a relative nocturnal cortisol deficiency.

17-alpha-Hydroxyprogesterone↗

PubMed1989

A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters.

We present a report on two sisters who have 17 alpha-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 alpha-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 alpha-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism. Dexamethasone suppressed the mineralocorticoid excess, including aldosterone, and improved their hypertension. In the untreated state, ACTH, instead of the renin-angiotensin system, regulated plasma aldosterone levels, but during dexamethasone treatment the renin-angiotensin system regulated these levels.

Adolescent↗

PubMed2005

Urinary markers of adrenarche: reference values in healthy subjects, aged 3-18 years.

Information on the urinary excretion of dehydroepiandrosterone (DHEA) and its direct metabolites is scarce for healthy subjects during growth. We used gas chromatography-mass spectrometry urinary steroid profiling to noninvasively study adrenarchal metabolome in 400 healthy subjects, aged 3-18 yr. Urinary 24-h excretion rates of DHEA did not increase significantly before age 7-8 yr. However, DHEA together with its 16alpha-hydroxylated downstream metabolites, 16alpha-hydroxy-DHEA and 3beta,16alpha,17beta-androstenetriol (DHEA&M), as well as the DHEA metabolite, 5-androstene-3beta,17beta-diol (ADIOL), and the sum of major urinary androgen metabolites (C19) rose consistently from the youngest to the oldest age group. The significant increases (P < 0.01) observed for 24-h excretion rates of C19, ADIOL, and DHEA&M were 2- to 4-fold in boys and girls between age 3 and 8 yr. DHEA&M, for example, rose from about 20 to 80 microg/d (P < 0.0001) during this period. Until the age of 16 yr, DHEA&M excretion also increased to nearly 1000 microg/d. Patterns of steroidogenic enzyme activities were assessed (from definite ratios of urinary steroid metabolites) for 21-hydroxylase, 3beta-hydroxysteroid dehydrogenase, 17beta-hydroxysteroid dehydrogenase, and 5alpha-reductase. Our results indicate for healthy boys and girls that adrenarche is a gradual process starting much earlier than hitherto believed. Efficient metabolism of DHEA, especially to 16-hydroxylated steroids, may explain the almost constant levels seen for this steroid until age 7-8 yr. The established reference values for DHEA, DHEA&M, ADIOL, C19 (including androsterone and etiocholanolone), and urinary parameters of steroidogenic enzyme activities could be useful to identify nutritional, environmental, and pathophysiological interrelations with the progressive maturational process of adrenarche. Our data may also be used as reference data for the diagnosis of steroid-related disorders.

3-Hydroxysteroid Dehydrogenases↗

PubMed1984

Quantitative metabolic profiling of testicular steroid secretions with bonded-phase capillary gas chromatography.

A procedure is described for quantitative metabolic profiling of nine steroids secreted by mouse testes. The procedure incorporates Celite column chromatography and a gas chromatograph equipped with a bonded-phase capillary column. Validation tests demonstrated that the procedure is precise, efficient, sensitive, and capable of providing information about the spectrum of steroids secreted by testes perfused in vitro. The procedure was used to determine the effect of the hemimelic extra toes gene mutation on the steroidogenic potential of inbred mouse testes perfused in vitro.

Animals↗

PubMed2003

11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy.

OBJECTIVE: We present the 1st case of prepubertal hyperandrogenism because of a defect in the conversion of cortisone (E) to cortisol (F) by hepatic 11beta-hydroxysteroid dehydrogenase type 1. METHODS AND RESULTS: Clinical and anthropometric data were obtained. Serum androgens and gonadotropins with luteinizing hormone releasing hormone stimulation test, dexamethasone suppression test, and corticotropin-releasing hormone stimulation test were evaluated. Adrenal imaging and urinary steroid profiling by gas chromatography/mass spectrometry were employed. A 6.9-year-old boy presented with precocious pubarche, height (+2.6 SD), accelerated bone age (11.5 years), and Tanner stage 2 pubic hair and genitalia. Serum androgen levels were elevated and dexamethasone suppressible. Serum F was normal, but the E concentration was increased. Central precocious puberty and congenital adrenal hyperplasia were excluded. The excretion of androgen metabolites was moderately increased, but a highly increased tetrahydrocortisone (THE) and a diminished tetrahydrocortisol (THF + allo-THF) excretion was found with a [THF + allo-THF/ THE] ratio of 0.032 (normal controls 1.05 +/- 0.17). The corticotropin-releasing hormone stimulation test showed an exaggerated adrenocorticotropic hormone response, suggesting a relative deficiency of F. Two months of hydrocortisone treatment (17.5 mg daily) failed to suppress androgens adequately. Treatment with dexamethasone (0.375 mg/daily) resulted in androgen suppression. CONCLUSIONS: In the case of precocious pubarche and accelerated growth, the diagnosis of 11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') should be considered. The diagnosis is based on determinations of urinary steroid metabolites.

11-beta-Hydroxysteroid Dehydrogenase Type 1↗

PubMed1979

Cushing's syndrome due to adrenocortical carcinoma - a comphrensive clinical and biochemical study of patients treated by surgery and chemotherapy.

Four post-menopausal women had Cushing's syndrome due to adrenal cortical carcinomas. Comprehensive analyses of blood and urinary steroids showed that although the steroid profiles differed between patients, the pattern in each patient remained almost constant as the disease progressed, or remitted due to therapy. Elevations of serum testosterone and oestradiol were commensurate with the extent of virilisation, and the urinary output of aldosterone was associated with the severity of hypertension. A new finding was that all had substantially increased urinary free deoxycorticosterone. Complete surgical removal of the primary tumours was impossible but when most of the tumour tissue was removed, full clinical and biochemical remissions were obtained for a short time in 2 patients. One patient obtained a clinical and biochemical remission from op'DDD. In another patient the drug caused reduction both in blood pressure and in urinary aldosterone excretion, but there were unpleasant side effects. A third patient could not tolerate op'DDD. Metyrapone therapy produced neither clinical nor biochemical improvement in 3 patients. The mean duration of survival was 17 months after the first symptoms and 10 months from the date of operation. Despite advances in drug therapy, adrenal cortical carcinoma remains a lethal disease. Biochemical screening of multiple steroids offers a means of early diagnosis and disease monitoring. Extensive surgical removal of the tumour offers the best chance of a clinical and biochemical remission.

17-Ketosteroids↗

PubMed2006

Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood. A 39-year-old male patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and asthenozoospermia. The patient's steroid metabolism showed markedly increased levels of adrenal androgens, in particular of 17-hydroxyprogesterone amd 21-deoxycortisol. The gas chromatographic-mass spectrometric (GC-MS) urinary steroid profile was dominated by metabolites of 17-hydroxyprogesterone, while the endogenous glucocorticoid production was subnormally low. ACTH levels in plasma were elevated. These hormonal findings were consistent with 21-hydroxylase deficiency. Therapy with dexamethasone was initiated. The CTP21A2 gene analysis revealed the mutation I172N (ATC --> AAC) in exon 4 of allele 1 and a large gene deletion in allele 2. Cases of 21-hydroxylase deficiency diagnosed in late adulthood are rare; however, clinicians should be alert of this possibility.

17-alpha-Hydroxyprogesterone↗

PubMed2006

Pioglitazone inhibits androgen production in NCI-H295R cells by regulating gene expression of CYP17 and HSD3B2.

Thiazolidinediones (TZDs) such as pioglitazone and rosiglitazone are widely used as insulin sensitizers in the treatment of type 2 diabetes. In diabetic women with polycystic ovary syndrome, treatment with pioglitazone or rosiglitazone improves insulin resistance and hyperandrogenism, but the mechanism by which TZDs down-regulate androgen production is unknown. Androgens are synthesized in the human gonads as well as the adrenals. We studied the regulation of androgen production by analyzing the effect of pioglitazone and rosiglitazone on steroidogenesis in human adrenal NCI-H295R cells, an established in vitro model of steroidogenesis of the human adrenal cortex. Both TZDs changed the steroid profile of the NCI-H295R cells and inhibited the activities of P450c17 and 3betaHSDII, key enzymes of androgen biosynthesis. Pioglitazone but not rosiglitazone inhibited the expression of the CYP17 and HSD3B2 genes. Likewise, pioglitazone repressed basal and 8-bromo-cAMP-stimulated activities of CYP17 and HSD3B2 promoter reporters in NCI-H295R cells. However, pioglitazone did not change the activity of a cAMP-responsive luciferase reporter, indicating that it does not influence cAMP/protein kinase A/cAMP response element-binding protein pathway signaling. Although peroxisome proliferator-activated receptor gamma (PPARgamma) is the nuclear receptor for TZDs, suppression of PPARgamma by small interfering RNA technique did not alter the inhibitory effect of pioglitazone on CYP17 and HSD3B2 expression, suggesting that the action of pioglitazone is independent of PPARgamma. On the other hand, treatment of NCI-H295R cells with mitogen-activated protein kinase kinase (MEK)/extracellular signal-regulated kinase (ERK) inhibitor 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one (PD98059) enhanced promoter activity and expression of CYP17. This effect was reversed by pioglitazone treatment, indicating that the MEK/ERK signaling pathway plays a role in regulating androgen biosynthesis by pioglitazone.

3-Hydroxysteroid Dehydrogenases↗

PubMed2004

Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.

BACKGROUND: In patients with glucocorticoid remediable aldosteronism (GRA), a rare hypertensive disorder caused by the presence of a chimeric aldosterone synthase (CYP11B2) and 11beta-hydroxylase (CYP11B1) gene, high level of urinary 18-hydroxycortisol (18OHF) excretion are observed. In some patients with hypertension, increased urinary 18OHF secretion is also found in the absence of the hybrid CYP11B1/CYP11B2 gene. We hypothesised that gene variants of CYP11B1 or CYP11B2 may be linked to this abnormal glucocorticoid production. METHODS: The urinary steroid profile was analysed by gas chromatography/mass spectrometry in 429 hypertensive patients and 98 (23%) thereof tested positive for increased 18OHF excretion. After correction for total cortisol excretion, 12 subjects showed an abnormally high 18OHF excretion. For genotyping DNA was obtained from six of these patients. All were tested negative for the hybrid CYP11B1/CYP11B2 gene and were further analysed for mutations in all exons and promoter regions of both CYP11B1 and CYP11B2 by single strand conformation polymorphism (SSCP) and sequencing when appropriate. RESULTS: The genetic analysis of the two genes revealed the presence of nine molecular variants in CYP11B2 and three in CYP11B1. In addition to published polymorphic sites, we identified two new variants in CYP11B2 but no new variants in CYP11B1. The newly identified CYP11B2 mutations are a C/T single nucleotide exchange located in the first intron and a double nucleotide exchange at the 3'-splice site of exon 8. The mutated sequence corresponds to the sequence of CYP11B1 indicating a gene conversion. This suggests that the mutant is not likely to affect splicing. Thus, none of the genetic variants identified explains the high urinary excretion of 18OHF. CONCLUSIONS: We present here a complete method for the genetic analysis of the CYP11B1 and CYP11B2 genes. By this method we could not identify genetic variants responsible for a GRA-like phenotype. The presence of high levels of 18OHF should not be used alone as a diagnosis tool for GRA.

Adult↗

PubMed1985

The relationship between tissue preparation and function; methods for the study of control of aldosterone secretion: a review.

The study of the control of aldosterone synthesis and secretion by the rat adrenal gland has over the past thirty years involved the application of many different in vivo and in vitro techniques. In this review the relationship between the data that each of these methods has produced is compared. There are striking differences in overall steroid production rates, and in the qualitative nature of the steroid profile which the various methods produce. In particular, aldosterone is secreted at higher rates in vivo, and when whole tissue preparations are used in vitro, than in incubations of isolated glomerulosa cells. In addition, while corticosterone is a major product of glomerulosa tissue in vitro, the available evidence suggests that it is not a major glomerulosa product in vivo.

Adrenal Glands↗

PubMed1992

Arginine vasotocin concentrations in the supraoptic nucleus of the lizard Anolis carolinensis are associated with reproductive state but not oviposition.

Arginine vasotocin (AVT) is a neuropeptide involved in reproductive function in many nonmammalian vertebrates. We determined brain and plasma AVT concentrations during the estrous cycle and oviposition in the lizard Anolis carolinensis. There were no differences in AVT concentrations in the plasma or any brain region during the ovipositional sequence. However, we found that females with an egg in each oviduct and a large pre-ovulatory follicle (diameter > 4.5 mm) in one-ovary had significantly higher AVT concentrations in the supraoptic nucleus (SON) of the hypothalamus than did females with small pre-ovulatory follicles in both ovaries. In a second study, females with an egg in each oviduct and a large pre-ovulatory follicle had significantly greater AVT concentrations in the SON than females with only one oviductal egg and a large pre-ovulatory follicle or females with an egg in each oviduct and a small pre-ovulatory follicle in each ovary. Concentrations of AVT in other brain regions and in the plasma did not differ among these groups. Changes in steroid profiles during estrous and/or direct neural communication between the uterus, ovary, and brain may account for the changes in AVT concentrations seen in the supraoptic nucleus during the estrous cycle of Anolis carolinensis.

Animals↗

PubMed2001

Changes in plasma progesterone in relation to vitellogenesis and gestation in the viviparous snake Vipera aspis.

Viviparity has arisen from oviparity on more than 100 independent occasions in squamate reptiles, providing an unique opportunity to investigate the ways in which endocrine control of gestation length has been modified by natural selection during this major transition in reproductive modes. Intuitively, the evolution of viviparity might be expected to involve an increasingly important role for the steroid hormone progesterone, rather than estradiol. Unfortunately, published data on this topic in snakes are scarce and often contradictory. Females of the viviparous snake Vipera aspis reproduce with a lower than annual frequency, providing the opportunity to examine steroid profiles simultaneously in vitellogenic, pregnant, and postparturient versus nonreproductive females. From 1990 to 1994, more than 500 blood samples were collected from more than 100 females. Progesterone, estradiol-17beta, and several plasma metabolites were assayed by radioimmunoassay and spectrophotometry. In contrast to earlier studies, we found significant differences between plasma progesterone levels in reproducing (10.5 +/- 9.1 ng ml(-1), N = 168) and nonreproducing (5.1 +/- 4.2 ng ml(-1), N = 121) females. Estradiol reached high levels during vitellogenesis (4.8 +/- 4.0 ng ml(-1), N = 16), and progesterone levels increased during gestation (from 3.7 ng ml(-1) before gestation to 18.7 ng ml(-1) at midgestation). However, experimental elevation of plasma progesterone levels with implants (up to 44.4 ng ml(-1)) did not modify plasma metabolite levels or delay parturition.

Animals↗

PubMed2005

An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: connection or coincidence?

An 88-yr-old woman presented with a 3x4x5 cm adrenal incidentaloma. Apart from partial cortisol deficiency there were no clinical or laboratory signs of abnormal hormone production. Because of suspicion of carcinoma, a urinary steroid profile was carried out which indicated 21-hydroxylase deficiency with elevated pregnantriol. Biopsy of the tumor showed benign adenoma tissue. The genetic analysis showed two mutations in the CYP21-gene, V281L and 1172N consistent with mild non-classic congenital adrenal hyperplasia (CAH). The patient showed a general improvement with a low prednisolone dose. Previous reports have shown increased prevalence of CAH in patients with adrenal tumors although, to our knowledge, no one has reported the combination in a patient as old as in ours. Thus, clinical signs and symptoms of CAH should be looked for in patients with adrenal incidentalomas, even in the very old ones, and if suspicion further diagnostic work-up should be carried out to provide adequate treatment and follow-up.

Adenoma↗

PubMed2003

Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary.

UNLABELLED: The aim of this study was to assess the effectivity of the identification of patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of systematic neonatal screening and to estimate the incidence. Dried blood-spot samples of patients clinically suspected at any age to have CAH were collected between 1978 and 1998 throughout the whole country. 17-Hydroxyprogesterone (17-OHP) was measured by radioimmunoassay. Age-specific cut-offs were used. The effectivity of the system was retrospectively assessed. Additional cases were sought to assess the overall incidence of CAH in Hungary. Among the 1,837 patients investigated, 185 cases of CAH were identified. The overall effectivity was 94.7%. The sensitivity and the specificity were 98.9% and 94.2%, respectively. Salt-wasting (SW) boys were, on average, diagnosed 2 weeks later than SW girls, while both boys and girls with the simple virilising (SV) form were diagnosed at similar ages (2 versus 2.5 years). An additional 19 cases were diagnosed during the study period using other methods (plasma and urinary steroid profiles without blood-spot 17-OHP measurements). The incidence of classical CAH in Hungary was 1:14,300 (CI 95% between 1:12,450 and 1:16,795). Presuming that the incidence of CAH is the same among boys and girls, one can calculate that the diagnosis was missed in 24 boys (2 SW, 22 SV). CONCLUSION: it is possible to identify the vast majority of classical cases of congenital adrenal hyperplasia without a neonatal mass screening programme. However, a significant number of boys with the simple virilising form missed whereas both salt-wasting boys and girls are diagnosed safely.

17-alpha-Hydroxyprogesterone↗

PubMed2003

Arterial hypertension with brachydactyly in a 15-year-old boy.

Autosomal dominant brachydactyly with hypertension is the only form of monogenic hypertension which is not sodium dependent. The disease is characterized by brachydactyly type E, short stature, arterial hypertension and aberrant loop of posterior inferior cerebellar artery (PICA) causing neurovascular conflict. So far the syndrome was described in one family in Turkey and two in Canada. We report a case of a 15-year-old boy who was admitted because of arterial hypertension 160/100 mmHg. He complained also of attacks of bilateral numbness of hands with deterioration of visual field. Examination revealed short stature (156 cm) and bone deformities of hands and feet consistent with brachydactyly type E. Ophthalmoscopy showed mild narrowing of retinal arteries. Serum electrolytes, blood gases, and renal function were normal. Renin activity and aldosterone concentrations were raised, and 24-h urinary excretion of catecholamines and urinary steroid profile were in normal range. Renal Doppler ultrasound was normal, but renal scintigraphy suggested vascular changes in the left kidney. Echocardiographic examination, besides mild left ventricular hypertrophy, was normal. Magnetic resonance angiography (angio-MR) revealed bilateral abnormal PICA loops and neurovascular conflict. Spiral angiotomography of renal arteries revealed narrow additional left renal artery. Both nonconsanguineous parents and younger brother were healthy, with normal height, without bone deformities, and had normal intracranial vessels. Amlodipine and metoprolol were given, and blood pressure lowered to 143/87. Adding rilmenidine gave no effect and enalapril was then added. It led to further improvement in blood pressure control. To our knowledge, this is the first pediatric description of a sporadic form of autosomal dominant brachydactyly with hypertension with abnormalities of brain and renal arteries.

Adolescent↗