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Abnormal internal genitalia

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0000812


An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). [from HPO]

Conditions with this feature

46,XY sex reversal 11
MedGen UID:
Concept ID:
Disease or Syndrome
SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia (da Silva et al., 2019; McElreavey et al., 2020). The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984).
Meckel syndrome, type 6
MedGen UID:
Concept ID:
Disease or Syndrome
Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.\n\nMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.

Professional guidelines


Vitale SG, Buzzaccarini G, Riemma G, Pacheco LA, Di Spiezio Sardo A, Carugno J, Chiantera V, Török P, Noventa M, Haimovich S, De Franciscis P, Perez-Medina T, Angioni S, Laganà AS
J Gynecol Obstet Hum Reprod 2023 Jun;52(6):102588. Epub 2023 Apr 13 doi: 10.1016/j.jogoh.2023.102588. PMID: 37061093
Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, Palmer J, Weisdorf D, Treister NS, Cheng GS, Kerr H, Stratton P, Duarte RF, McDonald GB, Inamoto Y, Vigorito A, Arai S, Datiles MB, Jacobsohn D, Heller T, Kitko CL, Mitchell SA, Martin PJ, Shulman H, Wu RS, Cutler CS, Vogelsang GB, Lee SJ, Pavletic SZ, Flowers ME
Biol Blood Marrow Transplant 2015 Mar;21(3):389-401.e1. Epub 2014 Dec 18 doi: 10.1016/j.bbmt.2014.12.001. PMID: 25529383Free PMC Article
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies


Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL
Pediatrics 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. PMID: 10429013


Colpaert C, Bogers J, Hertveldt K, Loquet P, Dumon J, Willems P
Pathol Res Pract 2000;196(11):783-90. doi: 10.1016/S0344-0338(00)80114-4. PMID: 11186176
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL
Pediatrics 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. PMID: 10429013

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