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PubMed1976

Delay of puberty and inhibition of reproductive processes in the rat by a gonadotropin-releasing hormone agonist analog.

Studies were performed in immature and mature female rats to determine the effects of chronic administration of [D-Leu6,des-Gly-NH210, Pro-ethylamide9]-gonadotropin-releasing hormone (GnRH) upon maturation and maintenance of reproductive function. Treatment of immature rats inhibited normal overian growth and maturation as evidenced by arrest of uterine growth, delay of vaginal opening, and absence of normal cycling. The primary responses in the mature animal were cessation of cycling, atrophy of the ovaries to a "prepuberal" size, and uterine weight regression. In both groups termination of treatment was followed by prompt restoration of normal ovarian mass and function, including support of breeding processes. The results presented here suggest that chronic administration of the GnRH analog inhibits ovarian steroid output either by direct action of the analog on the ovary or indirectly through qualitative or quantitative changes in levels of luteinizing hormone and follicle-stimulating hormone.

Animals↗
PubMed1995

Liver disturbances in obesity and diabetes mellitus.

Abnormal liver tests, right upper quadrant pain and hepatomegaly occurring in an obese or in a diabetic patient may point to the presence of fat or of glycogen accumulation in the liver parenchymal cells. Marked hepatomegaly due to cytoplasmic glycogen deposition is mainly found in poorly controlled insulin-dependent diabetic patients. If accompanied by cushingoid features, growth retardation and by delayed puberty, a diagnosis of Mauriac syndrome can be made. Hyperglycaemia, insulin administration and increased concentrations of the counterregulatory hormone cortisol may all play a role in the glycogen deposition by their concerted actions on the glycogen phosphorylase and synthase enzymes, promoting the accumulation of glycogen. Hypercortisolism may be responsible for growth retardation and delayed puberty in Mauriac patients. Regression of hepatomegaly and of the associated clinical characteristics may be obtained by a better metabolic control due to the administration of long-acting insulin and the change from single to twice daily injections. Fatty liver is rare in insulin-dependent diabetic patients and is indicative of a poor diabetic control. This process is quickly reversible by adequate insulin treatment. Steatosis is frequently found in maturity-onset diabetics and in obese patients. The pathogenetic mechanisms leading to the accumulation of triglycerides and of fatty acids in the hepatocytes can easily be understood from the normal cycling of fatty acids between the adiopose tissue and the liver. Histologic features of nonalcoholic steatohepatitis can also be found in obese and in diabetic patients. Steatohepatitis may rarely evolve into cirrhosis. In general, there is no correlation between the degree of the biochemical alterations and the severity of the histological findings.(ABSTRACT TRUNCATED AT 250 WORDS)

Diabetes Complications↗
PubMed2001

Altered sexually dimorphic nucleus of the preoptic area (SDN-POA) volume in adult Long-Evans rats by dietary soy phytoestrogens.

Naturally occurring estrogen-like molecules in plants (phytoestrogens), present via soy, in animal diets can alter morphology and physiology in rodents. Phytoestrogens have the ability to bind estrogen receptors and exert many of the biological responses evoked by physiological estrogens. This study characterized the effects of dietary phytoestrogens on the expression of body and prostate weight, circulating testosterone and estradiol levels, puberty onset, vaginal cyclicity, and volume of the sexually dimorphic nucleus of the preoptic area (SDN-POA) in Long-Evans rats. Using different experimental protocols, animals were fed either a phytoestrogen-rich (Phyto-600) or a phytoestrogen-free (Phyto-free) diet. Animals fed the Phyto-600 diet displayed significantly decreased body weights (in males and females), prostate weights and delayed puberty in females compared to that of animals fed the Phyto-free diet. Circulating testosterone or estradiol levels in males or estrous cyclicity were not altered by the diets. The volume of the SDN-POA was significantly altered by a change in diet at 80 days of age where one-half of the males or females fed the Phyto-600 diet (from birth) were switched to the Phyto-free diet until 120 days of age. Males initially fed a Phyto-600 diet but changed to a Phyto-free diet had significantly smaller SDN-POA volumes compared to males fed the Phyto-600 diet (long-term). These data suggest that consumption of phytoestrogens via a soy diet, significantly: (1) decreases body and prostate weight, (2) delays puberty onset, and (3) alters SDN-POA volumes during adulthood.

Aging↗
PubMed2005

Prepubertal chronic ethanol administration alters TTF-1 and Oct-2 expression in the hypothalamus of female rats.

We found that prolonged administration of ethanol (3 g/kg i.p. at 08:00, once per day) to young female rats starting on postnatal day 24 caused delayed puberty. We further found that prolonged ethanol administration changed the typical hypothalamic expression patterns of TTF-1 and Oct-2 and reduced GnRH mRNA expression. We suggest that these changes may cause the ethanol-induced disturbances in the regulation of GnRH in the hypothalamus and may be responsible for the ethanol-induced reduction in GnRH and LH associated with delayed puberty.

Aging↗
PubMed1981

Effect of manipulating central catecholamines on puberty and the surge of luteinizing hormone and gonadotropin releasing hormone induced by pregnant mare serum gonadotropin in female rats.

We have investigated the effect of manipulating central catecholamines on the timing of puberty (as assessed by vaginal opening) in female rats and the surge of luteinizing hormone (LH) and gonadotropin releasing hormone (GnRH) induced by pregnant mare serum gonadotropin (PMSG) in immature female rats. Manipulation of the catecholamines was carried out with either 6-hydroxydopamine (6-OHDA) administered with or without either desipramine (DMI) or pargyline, or alpha-methyl-p-tyrosine (alpha-MPT). The neonatal administration of 6-OHDA delayed puberty, an effect which was potentiated by pretreatment with DMI and was associated with a reduction in the rate of body growth. Catecholamine fluorescence in animals aged 60--65 days that had been treated with DMI followed by 6-OHDA was diminished only in the caudatus--putamen; treatment with 6-OHDA alone resulted in diminished fluorescence in the hypothalamus and in the intermediate but not the external layer of the median eminence. The neonatal administration of alpha-MPT had no significant effect on either the growth rate or the timing of puberty. Regular oestrous cycle occurred after puberty in animals treated with either 6-OHDA or alpha-MPT. The PMSG-induced LH surge was significantly enhanced by 6-OHDA (administered i.v.) plus DMI, and reduced by 6-OHDA injected in to the lateral ventricle (v). The inhibitory effect of 6-OHDA (v) was reduced by DMI, but in animals given 6-OHDA (i.v.) after pargyline there was a marked reduction in the height of the LH surge. There was a good correlation between the changes in the concentrations of LH in peripheral plasma and the concentrations of GnRH in pituitary stalk plasma in that the PMSG-induced surge of GnRH was significantly increased by 6-OHDA (i.v.) plus DMI and reduced by 6-OHDA (v). In animals treated with 6-OHDA (i.v. plus DMI catecholamine fluorescence was reduced only in the external layer of the median eminence, while after 6-OHDA (v) plus DMI degeneration was seen in the medial forebrain bundle. These results demonstrate a marked difference between the long-term and acute effects of 6-OHDA on the gonadotropin control system. Neonatal treatment with 6-OHDA plus DMI significantly delays puberty and the rate of body growth, but does not affect cyclical gonadotropin release and has no persistent effect on the hypothalamic catecholaminergic systems. The acute administration of 6-OHDA, depending upon the route of administration and whether it is given after DMI, can either potentiate or inhibit the PMSG-induced surge of GnRH and consequently LH by mechanisms which involve destruction, respectively, of either dopaminergic terminals in the median eminence or catecholaminergic fibres in the dorsal hypothalamus.

Animals↗
PubMed1996

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

Despite recent advances in the understanding of the pathophysiology of Kallmann's syndrome (KS), the patterns of inheritance in the majority of cases of GnRH deficiency in human subjects remain unclear. To define further the genetic and phenotypic variability of this syndrome, detailed family histories were reviewed in 106 cases of GnRH deficiency with or without anosmia [i.e. KS or idiopathic hypogonadotropic hypogonadism (IHH)]. The great majority of cases appeared to be sporadic, with only 19 probands (18%) having at least 1 family member with GnRH deficiency. However, of the families in which the proband was the sole member affected by KS or IHH, 9 had individuals with isolated anosmia, and 8 had a strong history of delayed puberty. If these phenotypes were considered as alternative manifestations of the same genetic defect that presented as KS or IHH in the proband, 34% of the cases in the present series could be considered familial. In these families, the most likely modes of transmission were assessed in several ways, including analysis of probands with KS as a distinct subset, and separate determinations based upon whether the phenotypes of isolated anosmia and/or delayed puberty were considered relevant to the inheritance of KS or IHH. The proportion of familial cases that could be attributable to an X-linked mode of inheritance was no greater than 36% in any of these analyses. We conclude that 1) most cases of GnRH deficiency in humans are sporadic and, thus, could represent new mutations; 2) the X-linked form is the least common among familial cases of KS or IHH; 3) defects in at least two autosomal genes can results in GnRH deficiency; and 4) associated clinical defects may well represent clues to the nature and/or location of these autosomal genes.

Female↗
PubMedDate not supplied

Juvenile diabetic cheiroarthropathy.

A peculiar involvement of the interphalangeal joints of both hands with palmar flexion of the fingers has been observed in 11 insulin-treated, nonrheumatoid, juvenile diabetics. The onset of diabetes occurred between 1 and 12 years of age. Painless deformities of the fingers with progressive stiffness and impaired extension started 4 to 10 years later. One patient complained of articular pain and swelling. X-ray and circulatory changes were absent or minimal. Prepubertal patients showed delayed puberty and stunted growth, adult patients had normal sexual development. Rheumatic or rheumatoid signs were absent. Electromyography showed minor abnormalities of the motor units, normal or subnormal motor nerve conduction velocity, increased median nerve terminal latency, in the absence of muscular atrophy or thickening of palmar tendons. Vibratory sensitivity was impaired in 1 subject. Juvenile cheiroarthropathy is associated with: a) early onset and poor control of diabetes; b) stunted growth; c) hepatomegaly; d) delayed puberty; e) long standing administration of insulin. The articular changes are distinct from previously known forms of "diabetic hand", such as atrophic neuropathy, osteoarthropathy, Dupuytren's contracture, carpal tunnel syndrome.

Adolescent↗
PubMed1999

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.

Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1. Mutations in another gene, DAX1 (AHC), cause X-linked adrenal hypoplasia congenita and HH. Affected boys usually present with primary adrenal failure in infancy or childhood and HH at the expected time of puberty. DAX1 mutations have also been reported to occur with a wider spectrum of clinical presentations. These cases include female carriers of DAX1 mutations with marked pubertal delay and a male with incomplete HH and mild adrenal insufficiency in adulthood. Given this emerging phenotypic spectrum of clinical presentation in men and women with DAX1 mutations, we hypothesized that DAX1 might be a candidate gene for mutation in patients with idiopathic sporadic or familial HH or constitutional delay of puberty. Direct sequencing of DAX1 was performed in 106 patients, including 85 (80 men and 5 women) with sporadic HH or constitutional delay of puberty and patients from 21 kindreds with familial forms of these disorders. No DAX1 mutations were found in these groups of patients, although silent single nucleotide polymorphisms were identified (T114C, G498A). This study suggests that mutations in DAX1 are unlikely to be a common cause of HH or pubertal delay in the absence of a concomitant history of adrenal insufficiency.

DAX-1 Orphan Nuclear Receptor↗
PubMed1979

Gonadotropin-releasing hormone infusion test in the distinction of hypopituitary patients from normal subjects.

We undertook a pilot study to determine whether infusion of gonadotropin-releasing hormone (GnRH) might improve the distinction of hypogonadotropinism from the normal state and might permit gonadotropin deficiency to be diagnosed in the prepubertal child. Normal prepubertal and pubertal boys had a greater luteinizing hormone (LH) reaction (delta LH 54 +/- 15 [SD] ng/ml and 165 +/- 23 ng/ml, respectively) to a 4-hour infusion (100 microgram/hour) than to a 100-microgram bolus of GnRH (19 +/- 9 and 52 +/- 35 ng/ml). These augmented responses were observed in boys with delayed puberty, but not in apparently hypogonadotropic males greater than or equal to 12 years old. LH (delta LH 445 to 1602 ng/ml) and FSH (delta FSH 718 to 2112 ng/ml) surges were induced consistently by GnRH infusion only in normal, postmenarchial females. In all, of 13 hypopituitary cases classified as hypogonadotropic on the basis of a subnormal response to GnRH infusion, 31% had a normal response to the GnRH bolus (P = 0.05). Thus, GnRH infusion testing seems to improve the distinction of hypogonadotropic patients from normal individuals, including boys with delayed puberty.

Adolescent↗
PubMed1987

The effects of zearalenone on reproduction in swine. II. The effect on puberty attainment and postweaning rebreeding performance.

Eighty-five prepuberal, crossbred gilts received, ad libitum, a diet containing 0 or 10 ppm purified zearalenone for 30 d beginning at 145 to 193 d of age. At the end of this period all gilts were placed on the control diet and exposed daily to a mature boar for 60 d. Within 3 to 5 d of zearalenone ingestion, gilts showed marked vulval swelling and reddening, which continued for the 30-d feeding period. Thereafter symptoms slowly subsided. Zearalenone treated gilts showed first estrus significantly later than controls (P<0.05), but the proportion of gilts showing estrus within 60 d of boar exposure was similar (P>0.05). The length of the first estrous cycle was not affected by the ingestion of zearalenone before puberty (P>0.05). In a second study, 65 multiparous, crossbred sows were full-fed twice daily a ration containing 0 or 10 ppm of purified zearalenone beginning 14 d before weaning. Postweaning, all sows were fed the control diet, were checked for estrus daily, and inseminated at the first postweaning estrus. Neither sows nor gilts from their litters exhibited signs of hyperestrogenism during treatment. Weaning to estrus interval was significantly extended in zearalenone treated sows (P<0.05), but all other variables of fertility assessed were similar. These data suggest that zearalenone ingestion before puberty delays the stimulation of puberty associated with boar exposure, but does not affect subsequent cyclicity if zearalenone is removed from the ration. Similarly, zearalenone ingestion during lactation delays the return to estrus after weaning, but does not affect subsequent fertility when removed from the ration at weaning.

Journal Article↗
PubMed2005

[Inappropriate sexual differentiation of sex reversal type in 16-year-old boy with male phenotype].

We present a case of a 16-year-old boy with gynecomastia and symptoms of delayed puberty (relatively small testes and penis), who attended the Endocrinology Clinic. Pubic hair development was normal. Basic hormonal blood tests showed a primary testicular lesion (hypergonadotropic hypogonadism). The result of karyotype examination showed female karyotype 46, XX. Based on those results the boy was diagnosed to be 46, XX male. A replacement testosterone therapy was administered. He stays in follow-up for gonad observation. The authors emphasize the possibility of establishing the diagnosis of a severe disorder belonging to the group of inappropriate sex differentiation of sex reversal type not earlier than in teenage adolescents, who present symptoms of delayed puberty. In such cases the main rule in establishing a final diagnosis is played by a physical examination with evaluation of sex development, as well as basic hormonal blood tests and karyotype result. Their correct interpretation is possible only by a physician who has reliable knowledge of the physiology of male sex determination.

Adolescent↗
PubMed1990

A rise in haemoglobin levels may enhance serum triiodothyronine (T3). Concentrations in prepubertal patients with beta-thalassaemia major.

The aim of the present study was to investigate the effects of increased haemoglobin (Hb) levels on the thyroid function in patients with beta-thalassaemia major. Basal levels of thyroid hormones (T4, T3) and free thyroid hormones (fT4, fT3), basal TSH concentrations and the TSH responses to a TRH bolus (0.2 mg iv) were studied in ten euthyroid thalassaemic patients, aged 8 to 19 years, and in one 12 years-old thalassaemic girl with primary hypothyroidism. Five euthyroid thalassaemic patients (aged 8 to 12 years), as well as the hypothyroid thalassaemic girl, were prepubertal, whereas five euthyroid thalassaemic patients (aged 15 to 19 years) had delayed puberty. In each patient, the endocrine evaluation was carried out under conditions of low Hb levels (31 days after the last blood transfusion, mean Hb = 9.8 +/- 1.5 g/dl), and 11 days after the transfusion of 2 units packed red blood cells (PRBC). The latter increased significantly Hb concentrations in all the thalassaemic patients (mean Hb = 12.8 +/- 2.5 g/dl, P less than 0.001). Twelve normal prepubertal subjects, aged 6 to 11 years, served as the control group. Before the PRBC transfusion, basal T4, T3, fT4, fT3 and TSH concentrations were similar in euthyroid prepubertal thalassaemic patients (EPT) and in euthyroid patients with delayed puberty (EDPT), and were comparable to those in control subjects. The TSH responses to TRH (TSH peak, area and delta area) observed in EPT patients were similar to those in the EDPT group, but significantly higher in comparison with the normal children.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1996

Toxicities of total-body irradiation for pediatric bone marrow transplantation.

PURPOSE: To determine the acute and late effects, including cognitive function, of total body irradiation (TBI) and chemotherapy for bone transplant (BMT) in children with immunodeficiency or hematologic disorders. METHODS AND MATERIALS: At UCSF, 15 children with immunodeficiency disorders and 58 children with leukemia received chemoradiotherapy between July 1982 and November 1993 and were evaluated for toxicity. Patients with severe combined immunodeficiency disorder (SCID) received 7 Gy TBI while leukemia patients received 12 Gy TBI. RESULTS: Eight immunodeficient patients (53%) are alive at 4 months to 11 years posttransplant. Acute toxicity was limited and treatment well tolerated. Most patients developed mild nausea and vomiting, skin rash, or erythema. Transient fever/chills, oral mucositis, and alopecia were noted in approximately 50% of patients. Seventy-three percent of all patients demonstrated acute liver dysfunction, but only four (27%) developed veno-occlusive disease. All children had decreased growth velocity but normal growth hormone levels. Other endocrinologic evaluations including adrenocorticotropic hormone (ACTH), cortisol, and thyroid hormones were normal. Only one evaluable girl had delayed puberty with late onset of secondary sexual characteristics. Neuropsychological testing demonstrated an intelligence quotient (IQ) reduction between the baseline and 1 year post-BMT, with some recovery at 3 years. Only one patient developed a clinically significant cataract. Thirteen percent of patients had chronic interstitial lung disease. Four children developed exostosis. Only 1 of the 15 children developed a second malignancy (acute myelogenous leukemia) at age 5, 51 months posttransplant for SCID. For patients with leukemia, similar toxicities were observed. Twenty-nine percent disease-free survival was noted with a mean follow-up of 4.7 years. Twenty-two percent had chronic interstitial lung disease and two patients were diagnosed with cataracts. Graft-vs.-host-disease (GVHD), pubertal development arrest, and delayed puberty were seen. One child developed papillary thyroid carcinoma, 49 months post-BMT. Similar neuropsychological testing decrements were also observed. CONCLUSION: Our experience suggests that intensive chemoradiotherapy, even at a young age, does not cause severe, acute, or late toxicities but does result in a small IQ decrement and the risk of secondary malignancy in children with long-term follow-up.

Adolescent↗
PubMed2000

Acute administration of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in pregnant Long Evans rats: association of measured tissue concentrations with developmental effects.

Prenatal exposure to TCDD interferes with fetal development at doses lower than those causing overt toxicity in adult animals. Exposure to TCDD during development produces alterations in the reproductive system of the developing pups- delayed puberty and reduced sperm counts in males and malformations in the external genitalia of females. The objectives of this study were to determine maternal and fetal tissue concentrations of TCDD after acute exposure and whether these tissue concentrations can be used to estimate the intensity of the developmental abnormalities reported by other laboratories. Pregnant Long Evans rats received a single, oral dose of 0.05, 0.20, 0.80, or 1.0 microg [3H]-TCDD/kg on gestation day (GD) 15, and maternal and fetal tissue concentrations of TCDD were measured on GD16 and GD21. On GD16, maternal liver contained the greatest amount of TCDD (30-47% administered dose). One day after administration of 0.20 microg TCDD/kg on GD15, there were 13.2 pg TCDD/g present in an individual fetus. This concentration is associated with delayed puberty and decreased epididymal sperm counts in male pups as well as malformations in the external genitalia of females. For the responses studied, tissue concentration measured during a critical period of gestation adequately predicts the intensity of the response. In addition, there was a strong correlation between fetal body burden and maternal body burden on GD16. A dose of 0.05 microg TCDD/kg resulted in maternal body burdens of 30.6+/-3.1 and 26.6+/-3.1 ng TCDD/kg on GD16 and GD21, respectively. In conclusion, low-level TCDD exposure during the perinatal stage of life can produce adverse effects within the developing pups and that tissue concentration measured during a critical period is the appropriate dose metric to predict adverse reproductive and developmental effects.

Animals↗
PubMed1996

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome.

The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical descriptions of 33 members of a six generation kindred with UMS. The number of affected individuals in this family is more than the sum of all previously reported cases of UMS. The clinical expression of UMS is highly variable. While most patients have limb deficiencies, the range of abnormalities extends from hypoplasia of the terminal phalanx of the 5th digit to complete absence of the ulna and 3rd, 4th, and 5th digits. Moreover, affected individuals may have posterior digital duplications with or without contralateral limb deficiencies. Apocrine gland abnormalities range from diminished axillary perspiration with normal breast development and lactation, to complete absence of the breasts and no axillary perspiration. Dental abnormalities include misplaced or absent teeth. Affected males consistently undergo delayed puberty, and both sexes have diminished to absent axillary hair. Imperforate hymen were seen in some affected women. A gene for UMS was mapped to chromosome area 12q23-q24.1. A mutation in the gene causing UMS can interfere with limb patterning in the proximal/distal, anterior/posterior, and dorsal/ventral axes. This mutation disturbs development of the posterior elements of forearm, wrist, and hand while growth and development of the anterior elements remain normal.

Abnormalities, Multiple↗
PubMed2005

Peripheral patterns of growth hormone, luteinizing hormone, and progesterone before, at, and after puberty in buffalo heifer.

Buffalo, the premier dairy animal in India, suffers from slow growth rate, delayed puberty, and silent heat. It is not known whether the delay in puberty in such animals is due to the delay in expression of hypothalamus-pituitary-gonadal functions. To determine the changes in growth hormone (GH), luteinizing hormone (LH), and progesterone before, at, and after puberty of Murrah buffalo heifers, six Murrah buffalo heifers (21.92 +/- 1.09 months of age, 269.67 +/- 7.97 kg body weight) were assigned to well-ventilated individual pens and fed a roughage-concentrate diet to provide weight gain of 0.4 kg/day. Blood samples were collected at 3-day intervals during a period of 12 months, and plasma harvested from blood samples was assayed for progesterone, LH, and GH. The day that plasma progesterone was greater than 1 ng/mL for three consecutive sampling days was defined as the day of puberty. Heifers attained puberty at an average age of 31.53 +/- 0.88 months with a body weight of 380.67 +/- 6.42 kg. Progesterone levels were very low (0.20 to 0.30 ng/mL) during the pre-pubertal period. There were two distinct elevations before the day of puberty onset. Plasma LH and GH concentrations increased (P < 0.05) during the months preceding puberty and were highest during the month before puberty. GH and LH were positively correlated (P < 0.05) prior to (r = +0.59) as well as after puberty (r = +0.42). A positive correlation (P < 0.05)between LH and body weight during the pre-pubertal period (r = +0.61) and thereafter, negative correlation (P < 0.05) during post-pubertal period (r = -0.64) was noted. GH and body weight showed positive correlation both before puberty (r = +0.92, P < 0.01) and after puberty (r = +0.32, P < 0.05). Results suggest that both GH and LH are equally important and vital cues in inducing onset of ovarian functions in buffalo heifers.

Animals↗
PubMed2006

P450c17 deficiency: clinical and molecular characterization of six patients.

CONTEXT: The characteristics of P450c17 deficiency include 46,XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development. OBJECTIVE: To better understand this rare enzymatic deficiency, we analyzed the CYP17A1 gene in six affected patients. DESIGN AND PATIENTS: We examined six patients, five 46,XY, and one 46,XX (age 9-29 yr) with complete lack of masculinization (female infantile external genitalia, no uterus) and delayed puberty, respectively, and different degrees of hypertension. MAIN OUTCOME MEASUREMENTS: Genotype-phenotype correlation was measured. RESULTS: Four homozygote mutations were identified by direct sequencing of the CYP17A1 gene corresponding to an alanin 302-proline (A302P) exchange; the loss of lysine 327 (K327del); the deletion of glutamate 331 (E331del); and the replacement of arginine 416 with a histidine (R416H). Both P450c17 activities were abolished in all the mutant proteins, except one, when expressed in COS1 cells. The E331del-mutated P450c17 retained 17alpha-hydroxylase activity. The mutant proteins were normally expressed, suggesting that the loss of enzymatic activity is not due to defects of synthesis, stability, or localization of P450c17 proteins. CONCLUSION: These studies confirm lack of masculinization in 46,XY individuals as the pathognomic sign of the complete P450c17 deficiency. In XX individuals P450c17 deficiency should be considered in cases of delayed puberty. Age of onset and the severity of hypertension do not seem to be constant. Careful examination of long-term follow-ups in two of our patients suggested to us that estrogen treatment in P450c17-deficient patients might worsen the enzymatic defect, leading to aggravation of the hypertension.

Adolescent↗
PubMed2000

Near final height in pubertal growth hormone (GH)-deficient patients treated with GH alone or in combination with luteinizing hormone-releasing hormone analog: results of a prospective, randomized trial.

To study the effects of delaying puberty in GH-deficient (GHD) children, we studied 21 GHD (9 boys, 14 girls), treatment-naive, pubertal patients in a prospective, randomized trial. Their chronological age was 14.3 +/- 1.6 yr, and their bone age was 11.3 +/- 1.1 yr (mean +/- SD) at the beginning of the study. Four patients who developed hypogonadotropic hypogonadism were subsequently excluded from the study. Patients were randomly assigned to receive GH + LH-releasing hormone analog (LHRH-A) (n = 7), or GH alone (n = 10). GH and LHRH-A treatment started simultaneously in each patient. GH (Nutropin) was administered at a dose of 0.1 U/kg x day sc, until patients reached a bone age (BA) of 14 yr in girls and 16 yr in boys, and LHRH-A (Lupron depot) was administered at a dose of 300 microg/ kg every 28 days in during 3 yr. We defined GH deficiency as patients with a growth velocity less than 4 cm/yr, BA delay more than 1 yr in relationship to chronological age, GH response to two stimulation tests less than 7 microg/L, associated with low serum insulin-like growth factor I and insulin-like growth factor binding protein 3 levels. Statistical analysis was performed by ANOVA or Kruskall Wallis when variances were not homogeneous. We observed a significant decrease in the rate of BA maturation in the group treated with GH+LHRH-A (1.5 +/- 0.2 yr) compared with the group treated with GH alone (4.2 +/-0.5 yr) during the 3 years of LHRH-A therapy (P < 0.05). This delay in BA maturation produced a significant gain in final height in the group treated with GH+LHRH-A, which reached - 1.3 +/- 0.5 SD score compared with -2.7 +/- 0.3 SD score (P < 0.05) in the group treated with GH alone. These results indicate that delaying puberty with LHRH-A in GHD children during treatment with GH increases final height.

Adolescent↗