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diagnosis of delayed puberty

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

... genetic test results, our posttest prob- ability of our patient having CHARGE syndrome has increased to ⬎ 99.9% from a pretest probability of 50%. If we had been dealing with a comparable gene that only had a 10% de novo ...

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Prevalence of hypothyroidism, diabetes mellitus and delayed puberty in patients of thalassemia major in a tertiary care center of Jammu province, Jammu Kashmir, India

Prevalence of hypothyroidism, diabetes mellitus and delayed puberty in patients of thalassemia major in a tertiary care center of Jammu province, Jammu Kashmir, India

... Hypothyroidism: A detailed history followed by thorough clinical examination were done to look for signs and symptoms of hypothyroidism. Thyroid stimulating harmone (TSH) levels were done in all patients and full thyroid ...

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Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty

Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty

... CCA is an uncommon form of corticotroph adenomas, which is usually associated with an aggressive clinical course. Rarely, as in our case, CCAs can be clinically silent but require careful monitoring to identify the ...

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Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

... precise diagnosis remains ...correct diagnosis, as over-masculinized female pseudohermaphrodites can be similar to under-masculinized male pseudohermaphro- ...this diagnosis, but the absence of ...

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Divergent responses to kisspeptin in children with delayed puberty

Divergent responses to kisspeptin in children with delayed puberty

... Seven subjects did not respond to kisspeptin. The lack of responses to kisspeptin and other aspects of their neuroendocrine profiles are similar to what we have observed in adults with IHH, a disease character- ized by ...

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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia

... correct diagnosis of AT, we hypothesize that physicians rely on telangiectasia to make this diagnosis and do not consider AT until tel- angiectasia ...a diagnosis at an earlier stage of the ...the ...

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ANABOLIC DRUGS TO PROMOTE GROWTH

ANABOLIC DRUGS TO PROMOTE GROWTH

... Nor is it necessary to deny the value of therapy with the male sex hormone in the boy with delayed puberty, small size, moderate retardation of bone age and sig-.. nificant psychologic d[r] ...

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A single sample GnRHa stimulation test in the diagnosis of precocious puberty

A single sample GnRHa stimulation test in the diagnosis of precocious puberty

... Children of both genders and all ethnicities (aged 1– 9 yrs) were identified who had undergone this multi- sample leuprolide acetate (20 mcg/kg SQ) stimulation tests for the suspected diagnosis of central ...

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Psychological assessment of mothers and their daughters at the time of diagnosis of precocious puberty

Psychological assessment of mothers and their daughters at the time of diagnosis of precocious puberty

... Although frequently touted as a rationale for initiating treatment with a GnRHa, the psychological consequences of precocious puberty in girls are unclear. Results from studies performed to date have been ...

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A Rare Cause of Precocious Puberty and Massive Ovarian Cysts Associated with Hypothyroidism

A Rare Cause of Precocious Puberty and Massive Ovarian Cysts Associated with Hypothyroidism

... hypothyroidism, delayed bone age, iso- sexual precocious puberty and massive ovarian cysts, with reversal to aprepubertal state following thyroid hor- mone replacement therapy ...

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Delayed Diagnosis of Injury in Pediatric Trauma

Delayed Diagnosis of Injury in Pediatric Trauma

... DDI, delayed diagnosis of injury; ED, emer- gency department; CT, computed tomographic; PICU, pediatric intensive care unit; GCS, Glasgow Coma Scale; ISS, injury severity.. score.[r] ...

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Delayed Diagnosis of Kawasaki Syndrome: An Analysis of the Problem

Delayed Diagnosis of Kawasaki Syndrome: An Analysis of the Problem

... timely diagnosis of KS and institution of therapy as soon as ...cal diagnosis of KS may appear over a protracted period of time, making identification more difficult and delaying ...

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Occult Pulmonary Hemorrhage as a Rare Presentation of Propylthiouracil-Induced Vasculitis

Occult Pulmonary Hemorrhage as a Rare Presentation of Propylthiouracil-Induced Vasculitis

... presentations, diagnosis may be chal- lenging, and delayed diagnosis is not uncommon without a high index of sus- picion, as illustrated by this report of a girl with Graves’ disease who devel- oped ...

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Major Challenges of Standard Antimalarial Drugs

Major Challenges of Standard Antimalarial Drugs

... Accessibility of formal healthcare services has multiple barriers and unfortunately these are likely to fall most on the poor that have the majority of malaria cases [6]. Equitable and sustainable access to high-quality ...

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Choledochal Cyst: Delayed Diagnosis in a Jaundiced Infant

Choledochal Cyst: Delayed Diagnosis in a Jaundiced Infant

... differential diagnosis of neonatal hepatitis and bilia- ry atresia. Klotz D, Cohn B, Kottomeier PK: Choledochal cysts: Diagnostic and therapeutic problems. Landing B: Considerations of t[r] ...

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Delayed Diagnosis of Pediatric Cervical Spine Injury

Delayed Diagnosis of Pediatric Cervical Spine Injury

... Data were collected pertaining to patient age, sex, cause of injury, presence or absence of neck pain, physical findings with particular attention to the neck and neurobogic examinations[r] ...

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Ovarian reaction and estrus manifestation in delayed puberty gilts after treatment with equine chorionic gonadotropin

Ovarian reaction and estrus manifestation in delayed puberty gilts after treatment with equine chorionic gonadotropin

... the delayed puberty gilts, pre-ovulatory follicles (PoF), corpora hemorrhagica (CH), corpora lutea (CL), or corpora albicantia (CA) were found on the ovaries upon post mortem ...the delayed ...

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Precocious puberty in Turner Syndrome: report of a case and review of the literature

Precocious puberty in Turner Syndrome: report of a case and review of the literature

... of cases and in many combinations such as 46XX/ 47XXX or 47XXX/48XXXX, or in combination including Turner syndrome cell lines such as 45X/47XXX or 45X/ 46XX/47XXX. Clinical characteristics include epicanthal folds, ...

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Impact of fetal and neonatal malnutrition on the onset of puberty and associated noncommunicable disease risks

Impact of fetal and neonatal malnutrition on the onset of puberty and associated noncommunicable disease risks

... of delayed development under conditions of chronic deprivation throughout child- hood, with evidence of accelerated puberty onset rooted in early life cues, does bring up the question of metabolic ...

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Blood Lead Levels and Delayed Onset of Puberty in a Longitudinal Study of Russian Boys

Blood Lead Levels and Delayed Onset of Puberty in a Longitudinal Study of Russian Boys

... In this prospective cohort study of Rus- sian boys, we observed significantly later pubertal onset for boys with BLLs of ⱖ 5 ␮ g/dL, compared with those with BLLs of ⬍ 5 ␮ g/dL; this findi[r] ...

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