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372 Possible Causes for Primary Amenorrhea, Short Stature

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[] A high thyroid stimulating hormone (TSH) result suggests the primary amenorrhea is due to primary hypothyroidism and should be followed with fT4 analysis.[] A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO.[]

  • Hypogonadotropic Hypogonadism

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

  • Pseudohypoparathyroidism

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

  • 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.[] Girls with this condition may experience amenorrhea, either primary or secondary. Growth failure is the most commonly seen feature of hypopituitarism.[] stature Necrosis of pituitary gland (postpartum) Panhypopituitarism Pituitary cachexia Pituitary insufficiency NOS Pituitary short stature Sheehan's syndrome Simmonds' disease[]

  • 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.[] This patient presented with primary amenorrhea.[] At the age of 17 years, the patient presented primary amenorrhea and was referred to our department.[]

  • Ovarian Dysgenesis

    stature.[] 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[] A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertility presented for reproductive endocrinology evaluation.[]

  • 46,XX Ovarian Dysgenesis-Short Stature Syndrome

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

  • Gonadal Dysgenesis

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

  • 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[] Primary amenorrhea is the absence of menarche.[] All primary amenorrhea patients with deletion or break-point at Xp1 1.1-11.4 were short statures.[]

  • Female Infertility due to Gonadal Dysgenesis

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

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