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372 Possible Causes for Primary Amenorrhea, Short Stature

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[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] A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO.[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]

  • 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]

  • Panhypopituitarism

    A man aged 27 years, 6 months was referred to the endocrine clinic for short stature and a bone age of 12 years, 6 months.[healio.com] Girls with this condition may experience amenorrhea, either primary or secondary. Growth failure is the most commonly seen feature of hypopituitarism.[symptoma.com] stature Necrosis of pituitary gland (postpartum) Panhypopituitarism Pituitary cachexia Pituitary insufficiency NOS Pituitary short stature Sheehan's syndrome Simmonds' disease[icd10data.com]

  • Gonadoblastoma

    Abstract A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features.[ncbi.nlm.nih.gov] This patient presented with primary amenorrhea.[ncbi.nlm.nih.gov] At the age of 17 years, the patient presented primary amenorrhea and was referred to our department.[ncbi.nlm.nih.gov]

  • Ovarian Dysgenesis

    stature.[ncbi.nlm.nih.gov] We present a case of a 33-year-old woman with Turner syndrome, primary amenorrhea and menopausal hormonal profile in which peritoneal endometriosis (white opacification type[ncbi.nlm.nih.gov] A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertility presented for reproductive endocrinology evaluation.[ncbi.nlm.nih.gov]

  • 46,XX Ovarian Dysgenesis-Short Stature Syndrome

    We report an 11 yr old boy with short stature, normal genitalia and XO/XY mosaicism.[nature.com] UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 4: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine[malacards.org] Females with a 45,XO karyotype characteristically have short stature, primary amenorrhea, streak gonads, and sexual infantilism.[library.med.utah.edu]

  • Gonadal Dysgenesis

    Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia.[ncbi.nlm.nih.gov] A 16-year-old adolescent referred for primary amenorrhea. Endocrine and surgical investigation, SRY mutational analysis.[ncbi.nlm.nih.gov] Gonadal agenesis and short stature are the main features in the surviving infants.[icd9data.com]

  • Primary Amenorrhea

    We report on a 30-year-old woman with short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46[ncbi.nlm.nih.gov] Primary amenorrhea is the absence of menarche.[ncbi.nlm.nih.gov] All primary amenorrhea patients with deletion or break-point at Xp1 1.1-11.4 were short statures.[ncbi.nlm.nih.gov]

  • Female Infertility due to Gonadal Dysgenesis

    Signs and symptoms include short stature and hypogonadism.[icd10data.com] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com] We report a case of a 17 year-old girl who presented with primary amenorrhoea, short stature and phenotypic features of Turner’s syndrome.[endocrine-abstracts.org]

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