Results 71 to 80 of about 43,260 (208)

Modern competency‐based teaching of human sexual development

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler   +2 more
wiley   +1 more source

Female phenotype associated with XY karyotype: report of a case with gonadal dysgenesis. [PDF]

open access: yes, 1969
The 3 conditions that should be considered in the differential diagnosis of individual ls of predominantly female phenotype who prove to be chromatin negative and 10 have an XY karyotype a re male pseudohermaphrodilism.
Pepler, WJ, Smith, M
core   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

open access: yesRevista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez   +5 more
doaj   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal   +4 more
wiley   +1 more source

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

open access: yesJournal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha   +3 more
doaj   +1 more source

Müllerian Agenesis Presenting as Primary Amenorrhea in a 16‐Year‐Old Girl From a Low‐Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Müllerian agenesis (MRKH syndrome) causes primary amenorrhea in phenotypically normal females. We report a 16‐year‐old girl with normal secondary sexual characteristics, a short blind vagina, absent uterus on ultrasonography, and a 46,XX karyotype.
Iftekhar Ahmed Sakib   +5 more
wiley   +1 more source

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

open access: yesJournal of Nepal Medical Association, 2019
Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is ...
Santosh Kumar Jha   +2 more
doaj   +1 more source

Gonadal dysgenesis and morphometric histologic analysis

open access: yes, 2014
Partial gonadal dysgenesis (PGD) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent Müllerian ducts and cryptorchidism in intersex patients with a 46,XY karyotype.
Scolfaro, Márcia R.   +2 more
core   +1 more source

Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

open access: yes, 1978
We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of females among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an
Hoefnagel, D   +4 more
core   +1 more source

Analyse der transkriptionellen Regulation des humanen endogenen Retrovirus HTDV/HERV-K [PDF]

open access: yes, 2004
Das humane Genom besteht zu etwa 8% aus retroviralen Sequenzen. Davon sind ca. 1-2% dem humanen endogenen Retrovirus K (HERV-K) zuzuordnen. Das Virus ist mit ca. 30-50 Proviren und ca. 10.000 sLTRs im humanen Genom vertreten.
Kraft, Martin
core  

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