Arthritis, and Gynecomastia

Medium match PACHYDERMOPERIOSTOSIS

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

• Scoliosis
• Ptosis
• Anemia
• Hepatomegaly
• Edema

SOURCES: ORPHANET MENDELIAN

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

• Hypertelorism
• Cleft palate
• Cryptorchidism
• Depressed nasal bridge
• Abnormality of the dentition

SOURCES: ORPHANET MENDELIAN

Low match ANE SYNDROME

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

• Intellectual disability
• Short stature
• Microcephaly
• Flexion contracture
• Skeletal muscle atrophy

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

• Peripheral neuropathy
• Hepatomegaly
• Fatigue
• Cardiomyopathy
• Congestive heart failure

SOURCES: ORPHANET MENDELIAN

Low match 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.

46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as 46,xx gonadal dysgenesis, complete, sry-positive|46,xx testicular disorder of sex development|46,xx ovotesticular dsd|xx male, sry-positive|46,xx sex reversal, sry-positive

• Cryptorchidism
• Hypospadias
• Hypogonadism
• Hypoplasia of penis
• Ambiguous genitalia

SOURCES: ORPHANET OMIM MENDELIAN

Low match BREAST CANCER

Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

• Neoplasm
• Pain
• Carcinoma
• Gynecomastia
• Breast carcinoma

SOURCES: ORPHANET OMIM MENDELIAN

Low match AROMATASE EXCESS SYNDROME

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

• Short stature
• Neoplasm
• Hypogonadism
• Falls
• Gynecomastia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012).For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see {147950}. ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 Is also known as fertile eunuch syndrome|pasqualini syndrome

• Abnormality of metabolism/homeostasis
• Hypogonadism
• Micropenis
• Infertility
• Decreased testicular size

SOURCES: OMIM MENDELIAN

Low match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY Is also known as 17-ketosteroidreductase deficiency|17-ketosteroid reductase deficiency of testis|pseudohermaphroditism, male, with gynecomastia|17-ketoreductase deficiency|17-ksr deficiency|neutral 17-beta-hydroxysteroid oxidoreductase deficiency|17-beta-hydroxysteroid d

• Cryptorchidism
• Abnormality of metabolism/homeostasis
• Hypothyroidism
• Infertility
• Hirsutism

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE

NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE Is also known as scapuloperoneal syndrome, neurogenic type, of kaeser|stark-kaeser syndrome|kaeser syndrome

• Skeletal muscle atrophy
• Dysphagia
• Talipes equinovarus
• Facial palsy
• Muscular dystrophy

SOURCES: ORPHANET OMIM MESH MENDELIAN