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580 Possible Causes for Primary Amenorrhea, Short Stature

  • Endocrine Dysfunction

    Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction.[uniprot.org] Amenorrhea may be classified as primary or secondary.[northwell.edu] Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism

    Aged 17 years, the boy was referred because of short stature (162 cm) and overweight (62.5 kg).[ncbi.nlm.nih.gov] She is a 20-year-old tall, eunuchoid female referred for evaluation of primary amenorrhea. Spontaneous thelarche occurred at the age of 15 years.[ncbi.nlm.nih.gov] Causes: Miscellaneous Prader-Willi Syndrome Obesity Short Stature Mild Mental Retardation Systemic Conditions Chronic gastrointestinal conditions Chronic Kidney Disease Gaucher's[fpnotebook.com]

  • Turner Syndrome

    […] abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group[ncbi.nlm.nih.gov] A high thyroid stimulating hormone (TSH) result suggests the primary amenorrhea is due to primary hypothyroidism and should be followed with fT4 analysis.[clinicaladvisor.com] Short stature was the main reason for referral of patients with and without TS.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    We report on a 10-yr-old Caucasian girl affected by Costello syndrome with fasting hypoglycemia and short stature, associated low circulating levels of acid-labile subunit[ncbi.nlm.nih.gov] Pubertal Development Six of the eight females in the report had delayed puberty and two had primary amenorrhea .[aadmd.org] Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov]

  • Growth Hormone Deficiency

    […] deficit, peripheral sensory neuropathy, and skeletal dysplasia.[ncbi.nlm.nih.gov] A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea.[ncbi.nlm.nih.gov] Synopsis Our patient is a 19-year-old female with short stature and primary amenorrhea, found to have prolactin-secreting macroadenoma only partially responsive to D2-agonist[pituitary.ucla.edu]

  • Mulibrey Nanism Syndrome

    […] mandible, hand anomalies, clubfoot syndrome Short stature, pituitary and cerebellar defect and small sella turcica syndrome Sjögren-Larsson syndrome Skeletal dysplasia with[icdlist.com] Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. jthc. 11(4):187-91.[jthc.tums.ac.ir] ) Sivunen J....Jalanko H. 2017 4 New intragenic rearrangements in non-Finnish mulibrey nanism. ( 28815877 ) Jobic F....Jedraszak G. 2017 5 Constrictive Pericarditis and Primary[malacards.org]

  • Septo-Optic Dysplasia

    Compared to other children referred for evaluation of short stature, children with SOD were younger (mean age 3.7 /- 3.6 vs 8.6 /- 4.9 years), had less severe short stature[ncbi.nlm.nih.gov] In the present report, the authors described two SOD cases that presented with primary amenorrhea and abnormal pubertal development. Clinical features.[ncbi.nlm.nih.gov] Physical examination revealed short stature, left hemiparesis, micropenis, and cryptorchidism.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications.[ncbi.nlm.nih.gov] We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity.[ncbi.nlm.nih.gov] His physical signs included a short stature, a thick neck, short fourth metacarpals and metatarsals, a spastic paraparesis and sphincteric disturbance.[ncbi.nlm.nih.gov]

  • Neuhauser Syndrome

    Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.org] Case presentation: Two sisters of a non-consanguineous family, presented to our genetics department with ataxia, primary amenorrhea and dysmorphic features.[epostersonline.com] Short stature, hypercholesterolemia, seizures and hypothyroidism have also been reported. Genetics No specific mutation has been found. Most cases occur sporadically.[disorders.eyes.arizona.edu]

  • Adrenogenital Syndrome

    Prognosis of Congenital Adrenal Hyperplasia (Adrenogenital syndromes) The outcome is usually associated with good health, but short stature may result even with treatment.[myvmc.com] This 27-year-old patient, first evaluated at the age of 18, had a masculine figure, abnormal external genitalia, and primary amenorrhea. Clitoridectomy was performed.[journals.lww.com] Some men and woman have short stature, severe acne, and decreased fertility.[encyclopedia.com]

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